bluuebunny/crossref_metadata_2025 huggingface dataset:
Population Carrier Screening: Psychological Impact
Authors: Gollust Sarah E , Wilfond Benjamin S
Published: October 2007

The main psychological consequences of carrier screening for recessive diseases include anxiety and confusion, particularly misunderstanding the significance of the carrier state. Studies of cystic fibrosis carrier screening suggest that patients' willingness to undergo testing and their psychological responses to testing are malleable, influenced by factors relating to program design and presentation of information.
Informed Consent and Multiplex Screening
Authors: Avard Denise , Kharaboyan Linda
Published: October 2007

Screening for multiple genetic conditions in a single test raises many ethical issues with regards to consent. If multiplex screening is made available to the general public, then healthcare professionals must offer proper genetic counselling to concerned parties.
Carrier Screening for Inherited Hemoglobin Disorders in Cyprus and the United Kingdom
Authors: Modell Bernadette
Published: October 2007

Community genetics means the combination of public health, primary care and genetics approaches required to deliver the benefits of advances in genetic knowledge to all those in the population who may benefit from them.
Carrier Screening of Adolescents in Montreal
Authors: Scriver Charles R , Mitchell John J
Published: October 2007

Description of a genetic screening program for high‐school students, to detect heterozygous carriers (Tay‐Sachs and β‐thalassemia diseases) and provide counseling about reproductive options.
Human Genetics: Ethical Issues and Social Impact
Authors: Sharpe Neil F , Carter Ronald Frederick
Published: October 2007

Although genetic testing provides information that gives some degree of control over a potentially devastating situation, restrictive test licensing and prohibitively expensive fees may deny patients' access to genetic testing services. A comparative analysis of genetic testing for breast cancer, cystic fibrosis, hereditary hemochromatosis and Canavan disease is useful to review the social, ethical and legal implications for medical care and research.
Human Genome Project as a Social Enterprise
Authors: Bereano Philip L
Published: October 2007

The Human Genome Project shows that technical developments are the products of social dynamics rather than historically inevitable ones, and that, in the society that produces them, they manifest the interests and concerns of the groups that are more powerful.
Commercialization of Human Genetic Research
Authors: Caulfield Timothy
Published: October 2007

The commercialization of human genetic research is necessary to ensure that the public will benefit from the rapid advances occurring in this area. Despite the benefits of industry involvement in the commercialization process, numerous ethical, legal and social issues have emerged to the fore.
Gene Therapy: Ethics and Regulation
Authors: Harrison Michael T
Published: October 2007

Ethical and regulatory considerations are paramount in gene therapy, which is the deliberate introduction of genetic material into human somatic cells for therapeutic, prophylactic or diagnostic purposes.
Gene Therapy: Expectations and Results
Authors: Martin Paul A
Published: October 2007

Industry has invested heavily in gene therapy since the first clinical trial in 1989. Ethical debates, regulations and public expectations have had a major impact on its commercial development.
Genetic Age: A Vision
Authors: Kreiner Thane
Published: October 2007

Genetic information is transforming research paradigms and spawning new economic trends. Powerful technologies entering the research market have a potential impact upon many industrial segments, ultimately enabling consumers to use genetic information and the consequent understanding of human variation to enhance their quality of life. Societies must proactively address challenges such as privacy and nondiscrimination while ensuring that the Information Age's ‘digital divide’ is not reproduced as a ‘genetic gap’ in the Genetic Age.
Stored Genetic Material: Use in Research
Authors: Skene Loane
Published: October 2007

The use of stored genetic material depends on how it was obtained and the consent that was given by the original person. If that person was fully informed and consented to the material being used in research, it is lawful to use it in research following guidelines for ethical conduct. If consent was not or cannot be obtained, the legal authority to use the material is less clear and research should be done only on anonymized and unlinked samples.
Animal Rights: Animals in Genetics Research
Authors: Wise Steven M
Published: October 2007

There are over a million species of animal with a staggering array of cognitive abilities. To determine whether it should be legal to use an animal in transgenic research, one must look to the animal, to the research and to the manner in which the animal is required to live as the result of being a research subject, and consider whether it would be legal to use an incompetent human in a similar situation, and why.
Cloning of Animals in Genetic Research: Ethical and Religious Issues
Authors: Linzey Andrew , Barsam Ara
Published: October 2007

There are major ethical and religious objections to the cloning of animals in genetic research. Chief among these are the violation of the intrinsic worth of animals, the use of animals as though they had only an instrumentalist value and, not least of all, the substantial harm caused to individual sentients.
Racism, Ethnicity, Biology and Society
Authors: Bradby Hannah
Published: October 2007

Racialized thinking about human diversity underlies some infamous medical and scientific abuses, albeit disguised by the language of ethnicity. Evidence of the continuing influence of thinking informed by race science highlights the importance of attending to terminology.
Olfactory Receptors
Authors: Giorgi Dominique , Gaillard Isabelle , Rouquier Sylvie
Published: October 2007

The sense of smell is mediated by olfactory receptors belonging to the seven‐transmembrane G‐protein‐coupled receptor superfamily. They are expressed at the surface of the cilia of olfactory sensory neurons that emerge in the olfactory epithelium of the nasal cavity, and for some of them in mature spermatozoa. The specific binding of odorant ligands initiates signals transmitted to the central nervous system through different relays, allowing an individual to identify precisely a particular odour. In mammals, olfactory receptors are encoded by a large multigene family of about 1000 members whose evolution of the number of functional genes is related to species‐specific olfactory needs and to olfactory ability.
Functional Complementation
Authors: Fujiki Yukio
Published: October 2007

Many studies on gene cloning, particularly on genes with a very low level of expression, have benefited from so‐called functional cloning of genes, mostly complementary DNAs in mammals, by phenotype‐complementation assay, using cell mutants deficient in biological pathways. One successful gene‐cloning study utilized a rapid functional complementation assay of mammalian somatic cell mutants.
Expression Analysis
In Vivo
Authors: Balling Rudi , Müller Werner
Published: October 2007

Analyzing gene expression
in vivo
is an unresolved technical task. Finding ways to see genes expressed without disturbing a complex organism is best done by inserting easily detectable marker genes into the genome, by replacing one copy of the endogenous gene and subsequently observing its expression under the microscope or through very sensitive CCD cameras.
‘Race’, IQ and Genes
Authors: Beckwith Jon , Alper Joseph S
Published: October 2007

Discoveries in molecular genetics have provided evidence that a biological or genetic conception of race is meaningless. Nevertheless, some researchers continue to maintain that racial differences in various behaviors, in particular, performance on IQ tests, result from genetic differences.
Fisher, Ronald Aylmer
Authors: Ruse Michael
Published: October 2007

Ronald A. Fisher (1890–1962) was a statistics pioneer who developed population genetics and created innovative mathematical experiments.
Malthus,Thomas Robert
Authors: Ruse Michael
Published: October 2007

Thomas Robert Malthus (1766–1834) was a population theorist who opposed theories of indefinite human progress. His thinking about the struggle for existence was very important for the evolutionist Charles Darwin.
Penrose, Lionel Sharples
Authors: Hodgson Shirley V
Published: October 2007

Lionel Penrose (1898–1972) was a British geneticist who pioneered human genetics, and developed mathematical data analysis and sibling‐pair analysis for use in genetic studies.
Malécot, Gustave
Authors: Epperson Bryan K
Published: October 2007

Gustave Malécot (1911–1998) was one of the founders of mathematical population genetics.
Herpes Simplex Viral Vectors in Gene Therapy
Authors: Fink David J , Glorioso Joseph C
Published: October 2007

Herpes simplex virus (HSV) is a human pathogen that naturally establishes a life‐long latent infection of human peripheral sensory neurons. Genetically modified recombinant HSV vectors have been constructed that are incapable of replication, but nonetheless efficiently infect and establish a latent‐like state in neurons
in vitro
and
in vivo
without the ability to reactivate. These vectors can be used to transfer and express genes in the nervous system using natural expression mechanisms already present in the virus genome. These products are designed to modify the structure and/or function of neuronal elements, and represent a novel therapeutic strategy for diseases of the nervous system.
Gene Therapy: Delivery Targeting
Authors: Glasgow Joel N , Beatty Matthew S , Curiel David T
Published: October 2007

Delivery targeting is a novel approach for the design and administration of therapeutic agents wherein the agent is rationally designed to localize to the site of disease in a self‐directed manner, usually via exploitation of unique biophysical properties of the diseased tissue.
Inherited Muscle Disease: Gene Therapy
Authors: Partridge Terence
Published: October 2007

Muscular dystrophies have been an area of special interest for genetic therapies. The abundance of skeletal muscle tissue in the body presents particular problems for this form of treatment.
Diabetes Mellitus: Gene Therapy
Authors: Barbu Andreea R , Welsh Nils
Published: October 2007

Gene therapy in diabetes mellitus can be defined as the transfer of deoxyribonucleic acid (DNA) to somatic cells to understand, treat or prevent the disease. For many gene therapy strategies in the treatment of diabetes, successful transduction of insulin‐producing cells is a prerequisite. Therefore, much effort is currently directed in developing efficient and nontoxic vectors for gene transfer in pancreatic insulin‐producing β‐cell. If available, these gene therapy tools could prevent the autoimmune β‐cell destruction in type 1 diabetes by protecting the remaining β‐cell mass in newly diagnosed diabetics or in prediabetic individuals at a high risk of becoming diabetic. Such an approach may also prove useful for promoting islet–graft survival after transplantation in diabetic patients. Alternatively, attempts are being made to genetically engineer cells to become artificial β‐cells. Such cells could conceivably compensate for the lost endogenous β‐cell mass and restore a regulated insulin secretion.
Meiosis
Authors: Tease Charles , Hultén Maj A
Published: October 2007

Meiosis is a specialized type of cell division that occurs only in the testis and ovary. The principal function of meiosis is to produce gametes (eggs and sperm) that have the haploid number of chromosomes. In humans, this represents a reduction from 46 (23 pairs) to 23 chromosomes (one complete set). Meiosis is also important for producing genetic variation in gametes.
Mammalian Sex Chromosome Evolution
Authors: Dorus Steve , Wyckoff Gerald J , Lahn Bruce T
Published: October 2007

The two mammalian sex chromosomes (the X and the Y), although highly dissimilar in sequence content, evolved from a pair of autosomes. Differentiation of the two sex chromosomes during evolution was initiated by the suppression of X–Y recombination, followed by the degeneration (as well as male specialization) of the nonrecombining portion of the Y chromosome.
Chromosome Rearrangement Patterns in Mammalian Evolution
Authors: Wienberg Johannes , Müller Ludwig Stefan
Published: October 2007

Closely related species often have the same or similar karyotypes. This has been demonstrated with salivary gland chromosomes of different
Drosophila
species, in which the sequence of rearrangements that occurred during evolution can often be traced. This also seems to be true for mammalian chromosomes. Therefore, the inspection of chromosomal changes with molecular defined probes by fluorescence
in situ
hybridization interpretation of the single or multiple steps that changed genomes during evolution.
Comparative Cytogenetics
Authors: Langford Cordelia F , Breen Matthew
Published: October 2007

Comparative cytogenetics uses molecular cytogenetic techniques to compare the organization of different genomes at the chromosomal level.
Comparative Cytogenetics Technologies
Authors: Müller Stefan , Wienberg Johannes
Published: October 2007

Great efforts have been made in vertebrate comparative genomics, especially comparing human with domestic animals and biomedical model species. Comparative genome analysis is providing an increasingly valuable tool in various fields of basic and applied genome research, such as the prediction of candidate gene loci in biomedical animal models, identification of quantitative trait loci and for evolutionary studies. For the future, this approach also promises to assist in the understanding of relationships between chromosome evolution and disease.
Comparative Chromosome Mapping: Rodent Models
Authors: Davis Lisa M , Liechty Melissa C , Hozier John C
Published: October 2007

A comparative chromosome map of two species describes the groups of genes and chromosome segments that have maintained physical proximity to each other on a chromosome since the species diverged and throughout subsequent evolution. Usually a comparative map describes the chromosomal homologies between two species using one species as a reference organism for one or more others.
Chromosomal Rearrangements in Primates
Authors: Stanyon Roscoe
Published: October 2007

Molecular cytogenetics techniques allow us to trace the chromosome evolution of primates and the origin of the human karyotype.
Chromosome 1
Authors: White Peter S
Published: October 2007

Human chromosome 1 is the largest human chromosome. This metacentric chromosome, which contains 8% of the genetic material in the genome, is characterized by several gene clusters, including the epidermal differentiation complex, and genes predisposing to a large number of human diseases.
Chromosome 10
Authors: Sarafidou Theologia , Moschonas Nicholas K
Published: October 2007

Human chromosome 10 (HC10) corresponds to about 4.2% of the total genome length. Eighty‐five of the 754 protein coding genes mapped to HC10 are associated with more than 100 genetic diseases. Susceptibility loci for 17 common multifactorial diseases, such as Alzheimer disease, type 1 diabetes and schizophrenia map to HC10.
Chromosome 12
Authors: Montgomery Kate , Kucherlapati Raju
Published: October 2007

Human chromosome 12 is a submetacentric chromosome that contains 4.5% of the genetic material in the genome. It is characterized by gene clusters including those encoding homeobox C, type II keratins and proline‐rich proteins. The final sequence of Human chromosome 12 has been published and annotated (Scherer
et al
., 2006).
Primates: Phylogenetics
Authors: Disotell Todd R
Published: October 2007

Hypotheses of primate phylogenetic relationships have been greatly influenced by molecular systematic approaches.
Evolutionary Thinking in the Medical Sciences
Authors: Stearns Stephen C
Published: October 2007

Evolutionary thinking in medicine draws both on the phylogenetic history ofHomo sapiensand on the dynamics of natural selection and genetic drift to give insight into antibiotic resistance, vaccine production, variation in drug response and reproductive biology. In the future, evolutionary developmental genetics promises to contribute to limb and nerve regeneration, and evolutionary functional genomics to aging, senescence and the correlates of mental disease.
Geneticization: Debates and Controversies
Authors: Hedgecoe Adam M
Published: October 2007

There is an increasing tendency to use genetic explanations to describe differences between individuals and groups, a process called ‘geneticization’. This is felt to increase inequality and lead to discrimination and a belief in genetic determinism among policy‐makers and the public, although some authors dispute the empirical basis for these worries.
Sociobiology, Evolutionary Psychology, and Genetics
Authors: Bateson Patrick
Published: October 2007

Much of human behavior, including violence and those activities thought to be characteristic of each sex, has been attributed to the heritage of human evolution. These ideas have stimulated much discussion but have been criticized for playing down the interplay between the developing individual and the environment. In modern times, its clearest expression has been in the writings of the sociobiologists and the evolutionary psychologists.
Behavioral Phenotypes: Goals and Methods
Authors: Finegan Jo‐Anne
Published: October 2007

The field of behavioral phenotypes involves the study of the cognitive and behavioral characteristics associated with genetic syndromes, leading to a fuller understanding of people with syndromes, and permits advances in knowledge regarding both atypical and typical human development.
Gene as a Cultural Icon
Authors: Nelkin Dorothy
Published: October 2007

The gene has assumed a cultural meaning that is independent of its biological definition – becoming a source of personal identity, a determinant of behavior and personality, and a basis of social stereotypes. This cultural construct of genetic essentialism has serious social policy implications.
Public Understanding of Genetics: The Deficit Model
Authors: Turney Jon
Published: October 2007

‘Public understanding of genetics’ is a problematic term. Calls for more education need to be examined carefully to tease out assumptions about who decides what people need to know about genetics and what effect the knowledge might have. A range of studies challenge the ‘deficit’ approach to public understanding, which tends to assume that the goal is abolishing ignorance, in pursuit of approval. A more nuanced approach is called for, taking account of what people already know about science and society as well as technical matters, and how they would prefer to interact with scientists and decision‐makers.
Citizens' Jury on Genetic Testing for Common Disorders
Authors: Longley Marcus J
Published: October 2007

It is important to discover the views of lay members of the public on genetic testing, which is a topic of intense popular interest, although the scientific, as well as ethical, legal and social issues are complex. The citizens' jury described here allowed 15 members of the public in Wales, UK, to hear, cross‐examine and debate a variety of perspectives on the topic over 4 days, and their recommendations (28 in all) provide a challenging agenda for health policy makers and clinicians alike, and a useful insight into the perspectives and priorities of lay people.
Heredity and the Novel
Authors: Davis Lennard J
Published: October 2007

The concept of heredity, as represented throughout the history of the novel, may be further illuminated by certain discoveries of the modern science of genetics.
Genetic Services: Access
Authors: Harris Rodney
Published: October 2007

Access to genetic services depends on the effective integration of specialist genetic centers with medical and other relevant specialties.
‘Race’ and Difference: Orientalism and Western Concepts
Authors: Khan Saeed A
Published: October 2007

Western thought has historically used science to promote racial difference and superiority. This pursuit may adversely affect the approach to scientific research in modern genetics.
Genetic Disorders in History and Prehistory
Authors: Nielsen Henrik
Published: October 2007

The historical aspects of genetic disorders are deduced from analysis of modern cases. Direct studies of DNA from ancient human remains could become integrated with this approach if a number of difficult technical problems can be solved.
Genetics as Explanation: Limits to the Human Genome Project
Authors: Cohen Irun R , Atlan Henri
Published: October 2007

The genome has been likened metaphorically to a computer program; but an inappropriate metaphor can mislead. The genome does not directly program the organism.
Darwin and the Idea of Natural Selection
Authors: Dover Gabriel
Published: October 2007

Natural selection is a consequence of differences in reproductive success among distinctly unique individual phenotypes living in a given generation, resulting in the differential representation of genes in the next generation. The reproducing, transient phenotype, not the eternal, ‘selfish’ gene, is the active unit of selection. The evolved, complex relationship between genotype and phenotype is largely unknown, and hopes for, or fears of, genetic determinism of human behavior are premature.
Christianity and Genetics
Authors: Badham Paul
Published: October 2007

There is a potential conflict between the picture of the human situation disclosed by genetic research and the assumptions of religious belief about what it means to be a person.
Narrative Ethics
Authors: Brock Stephen C
Published: October 2007

Narrative ethics is one approach to medical ethics of the clinical encounter. Narrative ethics is the form of medical ethics that accounts for personal identity experienced as life‐narrative. It expands the scope of ‘beneficence’ as it is usually manifest by the professional in the clinical encounter. It is a tool in the phenomenological analysis of illness experiences with the potential for influencing professional practice.
Complex Genetic Systems and Diseases
Authors: Sarkar Sahotra
Published: October 2007

Most traits of interest in medical (including psychiatric) contexts are complex traits of varied etiology including genetic factors. The study of genetic aspects of such traits presents a level of complexity not seen elsewhere in genetics. New molecular techniques provide promise for a solution to this problem.
Distributive Justice and Genetics
Authors: Farrelly Colin
Published: October 2007

What will the demands of distributive justice be in the postgenetic revolutionary world? Will genetic inheritance be regarded as socially distributed goods? This may seem a more reasonable position to assert as biotechnology progresses further toward human genetic manipulation.
Secular Humanism
Authors: Engelhardt H Tristram , Rasmussen Lisa M
Published: October 2007

Secular humanism is an attempt to offer a common moral vision based on a nonreligious conception of what is most truly ‘human’.
Bioethics: Utilitarianism
Authors: Savulescu Julian
Published: October 2007

Utilitarianism is a moral theory defining the right action as the action that maximizes the total of human well‐being. Applied to genetics, this theory broadly supports genetic testing, genetic selection of offspring with the opportunity to enjoy the best lives, gene therapy and genetic enhancement.
Bioethics: Practice
Authors: Elliott Carl , Johnston Josephine
Published: October 2007

Bioethics is a multidisciplinary field that encompasses academic bioethics, clinical bioethics and health policy. Contemporary currents in bioethics emphasize the significance of practical experience for moral judgment, the influence of narrative and rhetorical style on ethical reasoning, and the need to examine the social structures involved in the creation of power, authority and oppression.
Bioethics in Asia
Authors: Macer Darryl RJ
Published: October 2007

The discussion of the ethical, social and legal aspects of human relationships with life has a long history in Asia. While the general principles to resolve bioethical dilemmas in Asia may be similar to global ones, there have been some differences in emphasis, especially in policy‐making for environmental and medical ethics.
Nondirectiveness
Authors: LeRoy Bonnie S
Published: October 2007

Nondirectiveness is a concept that genetic counselors have supported as the foundation for their counseling approach. The underlying goal of nondirectiveness is to have the patient make fully informed autonomous decisions surrounding their genetic information.
Genetics, Reductionism and Autopoiesis
Authors: Rose Steven PR
Published: October 2007

There are many ways to describe and explain living processes; of these reductionism is one of the most powerful. Genetic reductionism begins with the idea of ‘hidden determinants’ of phenotypes, but there is no direct gene–phenotype link and the very concept of ‘a gene’ is problematic. Autopoiesis, the process by which an organism constructs itself out of the raw material of genes and environment, is a preferred concept to arbitrary nature/nurture partitioning. Yet there are strong ideological pressures toward adopting naïve genetic determinist metaphors.
Genetic Harm
Authors: Holtug Nils
Published: October 2007

To assess various moral issues in genetics, it is necessary to develop an account of genetic harm. This account requires an analysis of how genes and genetic information can be harmful.
Serine Proteases
Authors: Page Michael J , Cera Enrico Di
Published: October 2007

Serine proteases are enzymes that utilize a nucleophilic hydroxyl group donated from a serine amino acid side‐chain to hydrolyse the peptide bond of a substrate. Serine proteases mediate diverse biological processes from nonspecific digestion to highly regulated specific protein processing.
Cystatins
Authors: Shridhar Ravi , Keppler Daniel , Sloane Bonnie F
Published: October 2007

Cystatins are endogenous inhibitors of papain‐like cysteine proteases. Since the discovery that a polypeptide from chicken egg‐whites (chicken cystatin) could inhibit the plant cysteine protease, papain, more than 40 mammalian cystatins have been isolated.
Crystallins
Authors: de Jong Wilfried W , Lubsen Nicolette H
Published: October 2007

‘Crystallins’ were originally designated as the characteristic eye lens protein constituents, but several of them are now known to function also in other tissues. In humans, three types of crystallins are distinguished (α‐, β‐ and γ‐crystallins), which together make up more than 90% of the water‐soluble lens protein. Additional and unrelated types of crystallins are present in other vertebrates.
γ‐Aminobutyric Acid (GABA) Receptors
Authors: Russek Shelley J
Published: October 2007

γ‐Aminobutyric acid (GABA) is the most widely distributed inhibitory neurotransmitter in the central nervous system of adult vertebrates. Virtually all neurons are sensitive to GABA through its actions on either the diverse set of ionotropic type A receptors (GABAARs), the putative heterodimeric metabotropic type B receptors (GABABRs) or the ionotropic retina‐enriched type C receptors (GABACRs).
Facioscapulohumeral Muscular Dystrophy: Genetics
Authors: Upadhyaya Meena
Published: October 2007

Facioscapulohumeral muscular dystrophy (FSHD) is an enigmatic inherited disorder, while the disease locus for this condition was mapped some 17 years ago and the mutations associated with the disease are known, the exact identity of the FSHD gene remains elusive.
Vertebrate Evolution: Genes and Development
Authors: Graham Anthony
Published: October 2007

The most significant differences between the vertebrates and the other chordates lie in the head. These novel features probably emerged as a result of modifications to the developmental program, and they are thought to have aided the vertebrates in assuming a predacious lifestyle. More specifically, the evolution of these characteristics must have involved extensive regionalization of the central nervous system, the evolution of neural crest and ectodermal placodes and alterations to the pharynx.
Cystathionine β‐Synthase (CBS) Deficiency: Genetics
Authors: Kozich Viktor , Kraus Jan Peter
Published: October 2007

Cystathionine β‐synthase is an enzyme that catalyzes the condensation of homocysteine and serine to cystathionine. Its deficiency, an autosomal recessive trait resembling Marfan syndrome, is caused by more than 120 different mutations that affect ribonucleic acid processing or properties of the enzyme. The most common pathogenic mutation, c.833T > C, arose by a complex evolutionary process as evidenced by its relatedness to the alleles that contain the frequent polymorphism 844ins68.
Confronting Genetic Disease: Psychological Issues
Authors: Street Eddy , Evans Christine
Published: October 2007

The rapid growth of knowledge in medical genetics has reshaped the face of modern medicine. The accessibility of the genetic element of many disorders introduces different psychological tasks and challenges for individuals, couples and families.
Conceptualization of the Body in ‘Disability’
Authors: Edwards Steven D
Published: October 2007

According to a view derived from the philosopher Descartes, persons are composed of separable minds and bodies. When applied to the phenomenon of disablement, this generates a specific conception of disability.
Genetic Counseling for Muslim Families of Pakistani and Bangladeshi Origin in Britain
Authors: Shaw Alison
Published: October 2007

An effective counseling service for British Pakistani and Bangladeshi Muslim families should avoid giving undue negative emphasis to cousin marriages, and be sensitive to the range of personal and religious considerations involved in the use of medical technologies in pregnancy. Access to services would be improved by employing appropriately trained bilingual genetic professionals and interpreters, and by offering additional professional consultations for other members of the family.
Bacterial DNA in the Human Genome
Authors: Andersson Jan O
Published: October 2007

Sequence similarity between human and bacterial genes can be the result of several evolutionary processes, including horizontal gene transfer. Since sequence similarity searches alone fail to distinguish between the possibilities, phylogenetic analyses are needed.
Ornithine Transcarbamylase Deficiency: Genetics
Authors: Azevedo Luísa , Amorim António
Published: October 2007

Ornithine transcarbamylase deficiency, the most common urea cycle disorder, is an X‐linked trait displaying large phenotypic heterogeneity, which includes cases of symptomatic heterozygotes and wide mutational spectrum. Moreover,
de novo
mutations are common, particularly in the male gametogenesis, being responsible for as much as three‐fourth of female abnormal chromosomes. Recurrent mutations found in different human populations are associated with hypermutable CpG dinucleotides. These features render diagnosis, genetic counselling and treatment particularly difficult. The responsible gene is, however, an excellent model for research on human mutation, due to (a) the mode of transmission (allowing direct haplotype ascertainment and evaluation of the role of recombination, which occurs only in females) and (b) the abundance and diversity of mutations. Treatment strategies involve reduction of protein level intake and stimulation of alternative metabolic pathways or liver transplantation.
Sex Chromosome Abnormalities
Authors: Migeon Claude J , Pappas Kara B
Published: October 2007

In human subjects, the so‐called sex chromosomes are the X‐ and the Y‐chromosomes. The X‐chromosome includes about 1500 genes, only a few of which are involved in sex development (such asDAX‐1andAR). The Y‐chromosome includes a very limited number of genes, but one of them,SRY, is most important in male sex development. Multiple autosomal genes are also involved in sex development. Abnormalities of sex chromosomes can involve errors in the number of sex chromosomes, such as 45,X0 (Turner syndrome), 47,XXX, 47,XXY (Klinefelter syndrome), 47,XYY or mosaicism with at least one cell line having an aberrant number of sex chromosomes. Sex chromosome abnormalities also include aberrations of a single gene of the sex chromosome; resulting in errors in sex differentiation. This may result in 46,XX testicular disorder of sex development (DSD) 46,XY gonadal dysgenesis, 46,XX gonadal dysgenesis or ovatesticular DSD.
Microarrays in Disease Diagnosis and Prognosis
Authors: Stratowa Christian
Published: October 2007

Progress in microarray technologies will soon lead to their application in clinical practice. These high‐throughput technologies are expected to have a major impact on molecular pathology, initially in tumour classification and tumour staging.
Infectomics: Study of Microbial Infections Using Omic Approaches
Authors: Huang Sheng‐He , Li Bai‐Lian , Cao Hong
Published: October 2007

Infectomics is the study of infectomes, which are encoded by both host and microbial genomes, and mirror the interplay between pathogens and their hosts. There are three major types of infectomic approaches for dissecting of microbial infections: ecological infectomics, immunoinfectomics and chemical infectomics. The most challenging issue in infectomics is how to dissect the dynamic duality relationship between symbiosis and pathogenesis in microbial infections, and to predict and to mitigate infectious diseases.
Ethics and Evidence
Authors: Hallowell Nina
Published: October 2007

The familial nature of genetic information raises issues about patient confidentiality and the legitimacy of disclosure to biological kin. Ethical arguments center on the right to privacy versus the right to obtain knowledge about oneself. Empirical research suggests that, although the need for disclosure within the family is not contested, the practice of disclosing information to particular relatives is experienced as being ethically contentious.
Population History of Europe: Genetics
Authors: Barbujani Guido
Published: October 2007

Patterns of genetic diversity contain information on population histories. The archaeological record shows that people of different provenance entered Europe at different times. Analysis of genetic diversity suggests that the current Europeans do not derive from Neanderthal ancestors and shows the effects of both gene flow and reproductive isolation.
Surnames and Genetics
Authors: Jobling Mark A
Published: October 2007

Heritable surnames contain information about the relatedness of individuals within and between populations and thus can be used to estimate inbreeding and population structure. These estimates are affected adversely by the failure of underlying assumptions: many surnames have several founders, and the link between surname and inheritance can be broken by illegitimacy and other factors.
m
RNA
Export
Authors: Cheng Hong , Dufu Kobina , Valencia Patricia , Reed Robin
Published: October 2007

The expression of protein‐coding genes is a multistep process that begins with transcription and processing of premessenger ribonucleic acid (pre‐mRNA) in the nucleus. The mature mRNA is then exported from the nucleus to the cytoplasm for translation into protein. Export of mRNA involves a specific cellular machinery that is highly conserved from yeast to humans.
Genetic Conflict and Imprinting
Authors: Moore Tom
Published: October 2007

‘Imprinting’ is a mechanism causing differential expression of the parental alleles of certain genes during embryonic and postnatal development in mammals and during seed development in angiosperm plants. Imprinting evolves due to the reduced genetic relatedness of paternal, relative to maternal, alleles at loci influencing maternal investment in the offspring of polygamous females.
Translation Initiation: Molecular Mechanisms in Eukaryotes
Authors: Hellen Christopher UT , Pestova Tatyana V
Published: October 2007

Initiation is the first phase in protein synthesis, during which eukaryotic initiation factors assemble an 80S ribosome at an initiation codon of a messenger RNA (mRNA) such that this triplet is base‐paired to the CAU anticodon of aminoacylated initiator methionyl‐transfer RNA in the ribosomal peptidyl site. Initiation is followed by the elongation phase, in which the 80S ribosome moves along the mRNA, translating the open reading frame into protein.
Protein Families: Evolution
Authors: Copley Richard R
Published: October 2007

Analysis of protein sequence and structure shows that proteins can be grouped into evolutionarily related families. These families can be used to understand protein function and aspects of genome evolution.
Oncogenes
Authors: Todd Randy , Munger Karl
Published: October 2007

Oncogenes override normal regulatory controls and contribute to the malignant transformation of a cell. Mutation of their normal cellular counterparts (proto‐oncogenes) leads to a quantitative or qualitative alteration of cellular pathway members important for cancer formation and spread.
Osteoporosis and Osteopetrosis
Authors: Abu‐Amer Yousef , Darwech Isra , Otero Jesse
Published: October 2007

Osteoporosis is the most prevalent among bone diseases. It is manifested by low bone mass and architectural abnormalities that lead to bone fragility and elevated fracture risk. Mechanistically, osteoporosis occurs as a result of decreased bone formation (by osteoblasts) and increased bone resorption (by osteoclasts). Thus, a tip in the balance favouring bone resorption results in osteoporosis e.g. porous bone. A wide range of factors contribute to the development of osteoporosis including genetic predisposition, ageing, reduced physical activity, diet, hormonal changes and more. Osteopetrosis, however, reflects the state of dense yet fragile bones due to dysfunctional or lack of osteoclasts.
Phenylketonuria
Authors: Güttler Flemming , Guldberg Per
Published: October 2007

Phenylketonuria (PKU) is an autosomal recessive disorder caused by deficiency of phenylalanine hydroxylase (PAH). Demonstration of mutations in the
PAH
gene establishes PAH deficiency as the cause of hyperphenylalaninemia in the newborn and provides a basis for predicting the metabolic phenotype and anticipating the dietary requirements of the patient.
Dictyosteliumas a Biomedical Model
Authors: Boeckeler Katrina , Williams Robin SB
Published: October 2007

The social amoeba,Dictyostelium discoideum, has been commonly used to investigate cell motility, signal transduction, cell type differentiation and development. With the recent completion of the genome and the increasing number of experimental tools available for the organism, it has now become an attractive model for examining some well‐defined biomedical questions.
Atherosclerosis: Gene Therapy
Authors: Ylä‐Herttuala Seppo
Published: October 2007

Knowledge of the human genome has opened up the possibility of developing gene therapy for several inherited and acquired diseases, such as atherosclerosis and its complications.
Apoptosis and the Cell Cycle in Human Disease
Authors: Sjöström Johanna , Mäkelä Tomi
Published: October 2007

The cell cycle and apoptosis are central gene‐regulated cellular pathways. A number of diseases evolve due to deregulation of these pathways.
Apoptosis: Regulatory Genes and Disease
Authors: Müllauer Leonhard , Wohlfart Sabine , Scheucher Brigitte
Published: October 2007

Apoptosis is a form of active cell death that proceeds along genetically determined and interacting pathways of biochemical reactions. It is essential for development and continuous physiological cell renewal in multicellular organisms. A deregulation of apoptosis contributes to the pathogenesis of various human diseases such as cancer, autoimmune disorders and neurodegenerative pathologies.
Oncogenic Transcription Factors: Target Genes
Authors: Zerbini Luiz F
Published: October 2007

An elevated percentage of oncogenes and tumour suppressor genes encode transcription factors. Deregulated expression of transcription factors plays critical roles in different diseases including cancer. Furthermore, the majority of oncogenic signalling pathways converge on sets of transcription factors that ultimately control gene expression patterns resulting in disease progression. Since the expression and activities of these transcription factors are tightly regulated, they represent highly desirable points of therapeutical interference to validate them as drug targets.
Telomeres and Telomerase in Ageing and Cancer
Authors: Ouellette Michel M , Choi Kyung Hyun
Published: October 2007

Telomeres protect the ends of chromosomes and shorten each time somatic human cells divide. As a consequence, cells enter senescence after a limited number of divisions. The enzyme telomerase expressed in cancer cells and renewal tissues can prevent the shortening of telomeres and extend cellular lifespan.
Retinitis Pigmentosa
Authors: Xi Quansheng , Chen Qiuyun , Wang Qing
Published: October 2007

Retinitis pigmentosa is a heterogeneous group of retinal dystrophies that are characterized by photoreceptor cell degeneration, night blindness, a gradual loss of peripheral visual fields and eventual loss of central vision. Several genes responsible for the development of retinitis pigmentosa have now been identified and cloned, and these discoveries have defined the genetic pathways for pathogenesis of retinitis pigmentosa.
Weapons of Mass Destruction: Genotoxicity
Authors: Gosden Christine , Gardener Derek
Published: October 2007

Many chemical, biological and radiological weapons of mass destruction are genotoxic and damage DNA so that survivors of exposures are at increased risk of cancers, infertility, medical disorders and having children with birth defects. Each agent has specific effects – for example, aflatoxin causes liver cancer and nuclear weapons cause leukemia – indicating that each type of weapon has precise genomic targets and suggesting that therapies might be developed to aid victims and to counteract the threats posed by such weapons.
Transcriptional Channelopathies of the Nervous System
Authors: Waxman Stephen G
Published: October 2007

Recent studies have provided evidence for the existence of transcriptional channelopathies, which result from dysregulated expression of nonmutated channel genes. Examples of this new class of disorders are provided by peripheral nerve injury which triggers spinal sensory neurons to turn off some previously active sodium channel genes and turn on other previously silent sodium channel genes, a set of changes that can produce hyperexcitability of these cells, and by changes in sodium channel gene expression that may perturb cerebellar function in multiple sclerosis.
Mitochondrial Origins of Human Nuclear Genes and DNA Sequences
Authors: Martin William F
Published: October 2007

The human genome contains approximately 300 segments of mitochondrial DNA greater than 100 bp in length that were integrated during evolutionarily recent time into the nuclear chromosomes. The total number of genes encoding functional proteins in the human genome that ultimately stem from the ancestral mitochondrial genome is currently unknown, but it probably comprises a very substantial fraction of the genome.
Purifying Selection: Action on Silent Sites
Authors: Nielsen R , Akashi H
Published: October 2007

The role of selection on silent‐site evolution in humans is controversial. Mounting evidence suggests that selection for optimal base composition, codon usage or both may be common.
Great Apes and Humans: Genetic Differences
Authors: Gagneux Pascal
Published: October 2007

Humans and great apes (collectively known as the hominoids) share genomes of very similar size. Humans and chimpanzees shared a common ancestor 5–6 million years ago. Changes in regulatory regions affecting gene expression have been postulated, and a study has shown that gene expression differs especially in the brain. Furthermore, there is evidence of uniquely human segmental duplications accumulating near chromosome centromeres. Some of these harbor differences in transcripts between great apes and humans. Very few genomic differences that cause major changes in coding sequences of unique genes are documented, but at least one leads to a widespread biochemical difference. Humans and great apes share remarkably similar genomes.There is evidence for long predicted changes in gene regulation,and we are beginning to learn about small genetic differences with large phenotypic consequences.
Gene Clustering in Eukaryotes
Authors: Lawrence Jeffrey G
Published: October 2007

Genes are not organized at random within eukaryotic chromosomes. Multiple mechanisms can lead to the close proximity of genes whose products have related functions.
Serpins: Evolution
Authors: Silverman Gary A , Askew David J , Irving James A , Luke Cliff J , Kaiserman Dion , Bird Phillip I , Whisstock James C
Published: October 2007

The serpin superfamily of serine (and cysteine) proteinase inhibitors contains over 750 members represented in Bacteria, Archaea and Eukarya. All members of the serpin family share a unique tertiary structure that is critical to both inhibitory and noninhibitory functions. Serpins are involved in a vast array of biological processes, including the regulation of thrombosis, fibrinolysis and inflammation, and host defense.
Karyotype Evolution
Authors: Pardo‐Manuel de Villena Fernando
Published: October 2007

Comparative studies provide a blueprint of the pathways leading to the genome organization of modern mammals. Several evolutionary forces explain the direction and rate of karyotypic change during evolution.
Evolutionarily Conserved Noncoding DNA
Authors: Jegga Anil G , Aronow Bruce J
Published: October 2007

The availability of increasingly complete collections of genomic sequence data from evolutionarily separated species has created an outstanding opportunity to identify and examine the functions served by DNA sequences that have been highly conserved through evolution. These conserved sequence domains occur widely throughout the genomes of higher organisms.
rRNAGenes: Evolution
Authors: Gonzalez Iris L , Sylvester James E
Published: October 2007

The head‐to‐tail tandem arrangement of the rRNA gene repeats leads to their concerted evolution on both homologous and nonhomologous chromosomes. But not all parts of the rDNA unit are homogenized to the same extent.
ATP
‐Binding Cassette (
ABC
) Transporter Supergene Family: Genetics and Evolution
Authors: Dean Michael
Published: October 2007

The ATP‐binding cassette (ABC) genes encode transporters that are expressed on the cell membrane and are involved in the export of substances out of the cell or the movement of compounds inside the cell. Many ABC genes are mutated in human diseases or have a role in drug resistance to cancer chemotherapy.
Defensins: Evolution
Authors: Hughes Austin L
Published: October 2007

The α and β defensins are short, cationic peptides that are used in the antibacterial defenses of mammals. The α‐ and β‐defensin gene families have diversified as a result of recent gene duplications in several lineages of mammals, and there is evidence that positive Darwinian selection has had a role in their diversification.
Low‐density Lipoprotein Receptor (LDLR) Family: Genetics and Evolution
Authors: Schneider Wolfgang Johann
Published: October 2007

The low‐density lipoprotein receptor family comprises a large and growing number of genes, whose products contain a characteristic set of structural domains. Attempts to delineate the evolutionary history of this gene family must take into consideration newly discovered functions, ranging from ligand binding by the extracellular domains to signal transduction through the cytoplasmic regions of the receptors.
Trypsinogen Genes: Evolution
Authors: Chen Jian‐Min , Férec Claude
Published: October 2007

An evolutionary approach was used to study disease‐associated genes, to elucidate gene conversion events occurring between the highly homologous trypsinogen genes and to understand the nature of natural selection acting on the gene products. Genomic, transcriptomic and proteomic data were brought together to understand the formation of pseudogenes and the creation of new genes at this locus.