vania-janet/multiturn-rag-retrieval-data huggingface dataset:
Cousin marriage
The Latin American Collaborative Study of Congenital Malformation found an association between consanguinity and hydrocephalus , postaxial polydactyly , and bilateral oral and facial clefts . Another picture emerges from the large literature on congenital heart defects , which are conservatively estimated to have an incidence of 50 / 1,000 live births . A consistent positive association between consanguinity and disorders such as ventricular septal defect and atrial septal defect has been demonstrated , but both positive and negative associations with patent ductus arteriosus , atrioventricular septal defect , pulmonary atresia , and Tetralogy of Fallot have been reported in different populations . Associations between consanguinity and Alzheimer 's disease have been found in certain populations . Studies into the influence of inbreeding on anthropometric measurements at birth and in childhood have failed to reveal any major and consistent pattern , and only marginal declines were shown in the mean scores attained by consanguineous progeny in tests of intellectual capacity . In the latter case , it would appear that inbreeding mainly leads to greater variance in IQ levels , due in part to the expression of detrimental recessive genes in a small proportion of those tested .
Brontë family
The line of Patrick Brontë died out with his children , but Patrick 's brother had notable descendants , including James Brontë Gatenby , whose most important work was studying Golgi bodies in various animals , including humans , and Peter Brontë Gatenby , the Medical Director of the UN .
History of evolutionary thought
The rediscovery of Gregor Mendel 's laws of inheritance in 1900 ignited a fierce debate between two camps of biologists . In one camp were the Mendelians , who were focused on discrete variations and the laws of inheritance . They were led by William Bateson ( who coined the word genetics ) and Hugo de Vries ( who coined the word mutation ) . Their opponents were the biometricians , who were interested in the continuous variation of characteristics within populations . Their leaders , Karl Pearson and Walter Frank Raphael Weldon , followed in the tradition of Francis Galton , who had focused on measurement and statistical analysis of variation within a population . The biometricians rejected Mendelian genetics on the basis that discrete units of heredity , such as genes , could not explain the continuous range of variation seen in real populations . Weldon 's work with crabs and snails provided evidence that selection pressure from the environment could shift the range of variation in wild populations , but the Mendelians maintained that the variations measured by biometricians were too insignificant to account for the evolution of new species .
Gene
According to Mendelian inheritance , variations in an organism 's phenotype ( observable physical and behavioral characteristics ) are due in part to variations in its genotype ( particular set of genes ) . Each gene specifies a particular trait with different sequence of a gene ( alleles ) giving rise to different phenotypes . Most eukaryotic organisms ( such as the pea plants Mendel worked on ) have two alleles for each trait , one inherited from each parent .
Gene
The duplication and transmission of genetic material from one generation of cells to the next is the basis for molecular inheritance , and the link between the classical and molecular pictures of genes . Organisms inherit the characteristics of their parents because the cells of the offspring contain copies of the genes in their parents ' cells . In asexually reproducing organisms , the offspring will be a genetic copy or clone of the parent organism . In sexually reproducing organisms , a specialized form of cell division called meiosis produces cells called gametes or germ cells that are haploid , or contain only one copy of each gene . The gametes produced by females are called eggs or ova , and those produced by males are called sperm . Two gametes fuse to form a diploid fertilized egg , a single cell that has two sets of genes , with one copy of each gene from the mother and one from the father .
German Shepherd
Degenerative myelopathy , a neurological disease , occurs with enough regularity specifically in the breed to suggest that the breed is predisposed to it . A very inexpensive DNA saliva test is now available to screen for degenerative myelopathy . The test screens for the mutated gene that has been seen in dogs with degenerative myelopathy . A small study in the UK showed 16 % of young asymptomatic GSDs to be homozygous for the mutation , with a further 38 % being carriers . Now that a test is available the disease can be bred out of breeds with a high preponderance . The test is only recommended for predisposed breeds , but can be performed on DNA samples from any dog , collected through swabbing the inside of the animal 's cheek with a sterile cotton swab . Prospective German Shepherd buyers can now request the test from the breeder or buy from a breeder that is known to test their dogs .
Henry Clay
By the time of his death , his only surviving children were his sons Theodore , Thomas , James Brown Clay and John Morrison Clay , who inherited the estate and took portions for use . For several years ( 1866 -- 1878 ) , James Clay allowed the mansion to be used as a residence for the regent of Kentucky University , forerunner of the University of Kentucky and present - day Transylvania University . The mansion and estate were later rebuilt and remodeled by Clay 's descendants . John Clay designated his portion of the estate as Ashland Stud , which he devoted to breeding thoroughbred horses .
Eating disorder
There are various childhood personality traits associated with the development of eating disorders . During adolescence these traits may become intensified due to a variety of physiological and cultural influences such as the hormonal changes associated with puberty , stress related to the approaching demands of maturity and socio - cultural influences and perceived expectations , especially in areas that concern body image . Eating disorders have been associated with a fragile sense of self and with disordered mentalization . Many personality traits have a genetic component and are highly heritable . Maladaptive levels of certain traits may be acquired as a result of anoxic or traumatic brain injury , neurodegenerative diseases such as Parkinson 's disease , neurotoxicity such as lead exposure , bacterial infection such as Lyme disease or parasitic infection such as Toxoplasma gondii as well as hormonal influences . While studies are still continuing via the use of various imaging techniques such as fMRI ; these traits have been shown to originate in various regions of the brain such as the amygdala and the prefrontal cortex . Disorders in the prefrontal cortex and the executive functioning system have been shown to affect eating behavior .
Eating disorder
Epigenetics : Epigenetic mechanisms are means by which environmental effects alter gene expression via methods such as DNA methylation ; these are independent of and do not alter the underlying DNA sequence . They are heritable , but also may occur throughout the lifespan , and are potentially reversible . Dysregulation of dopaminergic neurotransmission due to epigenetic mechanisms has been implicated in various eating disorders . One study has found that `` epigenetic mechanisms may contribute to the known alterations of ANP homeostasis in women with eating disorders . '' Other candidate genes for epigenetic studies in eating disorders include leptin , pro-opiomelanocortin ( POMC ) and brain - derived neurotrophic factor ( BDNF ) .
Cousin marriage
A BBC report discussed Pakistanis in Britain , 55 % of whom marry a first cousin . Given the high rate of such marriages , many children come from repeat generations of first - cousin marriages . The report states that these children are 13 times more likely than the general population to produce children with genetic disorders , and one in ten children of first - cousin marriages in Birmingham either dies in infancy or develops a serious disability . The BBC also states that Pakistani - Britons , who account for some 3 % of all births in the UK , produce `` just under a third '' of all British children with genetic illnesses . Published studies show that mean perinatal mortality in the Pakistani community of 15.7 per thousand significantly exceeds that in the indigenous population and all other ethnic groups in Britain . Congenital anomalies account for 41 percent of all British Pakistani infant deaths . The BBC story contained an interview with Myra Ali , whose parents and grandparents were all first cousins . She has a very rare recessive genetic condition , known as Epidermolysis bullosa which will cause her to lead a life of extreme physical suffering , limited human contact and probably an early death from skin cancer . Knowing that cousin marriages increase the probability of recessive genetic conditions , she is understandably against the practice . Finally , in 2010 the Telegraph reported that cousin marriage among the British Pakistani community resulted in 700 children being born every year with genetic disabilities .
Fingerprint
People with Naegeli -- Franceschetti -- Jadassohn syndrome and dermatopathia pigmentosa reticularis , which are both forms of ectodermal dysplasia , also have no fingerprints . Both of these rare genetic syndromes produce other signs and symptoms as well , such as thin , brittle hair .
Neuron
Alzheimer 's disease ( AD ) , also known simply as Alzheimer 's , is a neurodegenerative disease characterized by progressive cognitive deterioration together with declining activities of daily living and neuropsychiatric symptoms or behavioral changes . The most striking early symptom is loss of short - term memory ( amnesia ) , which usually manifests as minor forgetfulness that becomes steadily more pronounced with illness progression , with relative preservation of older memories . As the disorder progresses , cognitive ( intellectual ) impairment extends to the domains of language ( aphasia ) , skilled movements ( apraxia ) , and recognition ( agnosia ) , and functions such as decision - making and planning become impaired .
Homologous chromosome
Early in the 1900s William Bateson and Reginald Punnett were studying genetic inheritance and they noted that some combinations of alleles appeared more frequently than others . That data and information was further explored by Thomas Morgan . Using test cross experiments , he revealed that , for a single parent , the alleles of genes near to one another along the length of the chromosome move together . Using this logic he concluded that the two genes he was studying were located on homologous chromosomes . Later on during the 1930s Harriet Creighton and Barbara McClintock were studying meiosis in corn cells and examining gene loci on corn chromosomes . Creighton and McClintock discovered that the new allele combinations present in the offspring and the event of crossing over were directly related . This proved interchromosomal genetic recombination .
German Shepherd
Additionally , German Shepherds have a higher than normal incidence of Von Willebrand disease , a common inherited bleeding disorder , and exocrine pancreatic insufficiency ( EPI ) , a degenerative disease of the pancreas . It is estimated that 1 % of the UK GSD population suffers from this disease . Treatment is usually in the form of pancreatic supplements taken with food .
Cell-free fetal DNA
cffDNA may be detected by finding paternally inherited DNA sequences via polymerase chain reaction ( PCR ). > Quantitative
Ellis Island
Physical : people who had hereditary or acquired physical disability . These included sickness and disease , deformity , lack of limbs , being abnormally tall or short , `` feminization '' , etc . Mental : people who showed signs or history of mental illness and intellectual disability . These included `` feeblemindedness '' , `` imbecility '' , depression , and other illnesses that stemmed from the brain such as epilepsy and cerebral palsy . Moral : people who had `` moral defects '' at the time were , but not limited to : homosexuals and those of `` illicit sexuality '' , criminals , impoverished , and other groups associated with degeneracy that deviated from the considered `` norm '' or American society at the time .
Atomic bombings of Hiroshima and Nagasaki
Hibakusha and their children were ( and still are ) victims of severe discrimination in Japan due to public ignorance about the consequences of radiation sickness , with much of the public believing it to be hereditary or even contagious . This is despite the fact that no statistically demonstrable increase of birth defects or congenital malformations was found among the later conceived children born to survivors of Hiroshima and Nagasaki . A study of the long - term psychological effects of the bombings on the survivors found that even 17 -- 20 years after the bombings had occurred survivors showed a higher prevalence of anxiety and somatization symptoms .
Mitochondrion
The near - absence of genetic recombination in mitochondrial DNA makes it a useful source of information for scientists involved in population genetics and evolutionary biology . Because all the mitochondrial DNA is inherited as a single unit , or haplotype , the relationships between mitochondrial DNA from different individuals can be represented as a gene tree . Patterns in these gene trees can be used to infer the evolutionary history of populations . The classic example of this is in human evolutionary genetics , where the molecular clock can be used to provide a recent date for mitochondrial Eve . This is often interpreted as strong support for a recent modern human expansion out of Africa . Another human example is the sequencing of mitochondrial DNA from Neanderthal bones . The relatively large evolutionary distance between the mitochondrial DNA sequences of Neanderthals and living humans has been interpreted as evidence for the lack of interbreeding between Neanderthals and anatomically modern humans .
Telangiectasia
Bloom 's syndrome ( homozygous null mutation in BLM DNA repair enzyme . similar mechanism & etiology to ataxia telangiectasia . ) Naevus flammeus ( port - wine stain ) Klippel - Trenaunay syndrome Maffucci 's syndrome ( multiple enchondromas & hemangiomas ) Hereditary hemorrhagic telangiectasia ( Osler - Weber - Rendu syndrome ) Ataxia - telangiectasia Sturge - Weber syndrome , a nevus formation in the skin supplied by the trigeminal nerve and associated with facial port - wine stains , glaucoma , meningeal angiomas and mental retardation Hypotrichosis -- lymphedema -- telangiectasia syndrome , caused by mutation in transcription factor SOX18
Gene
Alleles at a locus may be dominant or recessive ; dominant alleles give rise to their corresponding phenotypes when paired with any other allele for the same trait , whereas recessive alleles give rise to their corresponding phenotype only when paired with another copy of the same allele . If you know the genotypes of the organisms , you can determine which alleles are dominant and which are recessive . For example , if the allele specifying tall stems in pea plants is dominant over the allele specifying short stems , then pea plants that inherit one tall allele from one parent and one short allele from the other parent will also have tall stems . Mendel 's work demonstrated that alleles assort independently in the production of gametes , or germ cells , ensuring variation in the next generation . Although Mendelian inheritance remains a good model for many traits determined by single genes ( including a number of well - known genetic disorders ) it does not include the physical processes of DNA replication and cell division .
Original sin
The doctrine of ancestral fault ( προγονικὸν ἁμάρτημα progonikon hamartema ) , i.e. the sins of the forefathers leading to punishment of their descendants , was presented as a tradition of immemorial antiquity in ancient Greek religion by Celsus in his True Doctrine , a polemic attacking Christianity . Celsus is quoted as attributing to `` a priest of Apollo or of Zeus '' the saying that `` the mills of the gods grind slowly , even to children 's children , and to those who are born after them '' . The idea of divine justice taking the form of collective punishment is also ubiquitous in the Hebrew Bible .
Collagen
Knobloch syndrome -- Caused by a mutation in the COL18A1 gene that codes for the production of collagen XVIII . Patients present with protrusion of the brain tissue and degeneration of the retina ; an individual who has family members suffering from the disorder is at an increased risk of developing it themselves since there is a hereditary link .
Egg donation
When anyone other than the parents know about the donation , such that the child might find it out from somebody else . When the recipient carries a significant genetic disease , since telling the child will reassure the child that he or she does not carry the disease . Where the child is found to suffer from a genetically - transmitted disorder and it is necessary to take legal action which then identifies the donor .
Boxer (dog)
Leading health issues to which Boxers are prone include cancers , heart conditions such as aortic stenosis and arrhythmogenic right ventricular cardiomyopathy ( the so - called `` Boxer cardiomyopathy '' ) , hypothyroidism , hip dysplasia , and degenerative myelopathy and epilepsy ; other conditions that may be seen are gastric dilatation volvulus ( also known as bloat ) , intestinal problems , and allergies ( although these may be more related to diet than breed ) . Entropion , a malformation of the eyelid requiring surgical correction , is occasionally seen , and some lines have a tendency toward spondylosis deformans , a fusing of the spine , or dystocia . Other conditions that are less common but occur more often in Boxers than other breeds are hystiocytic ulcerative colitis ( sometimes called Boxer colitis ) , an invasive E. coli infection , and indolent corneal ulcers , often called Boxer eye ulcers .
Cousin marriage
In 1846 , Massachusetts Governor George N. Briggs appointed a commission to study mentally handicapped people ( termed `` idiots '' ) in the state . This study implicated cousin marriage as responsible for idiocy . Within the next two decades , numerous reports ( e.g. , one from the Kentucky Deaf and Dumb Asylum ) appeared with similar conclusions : that cousin marriage sometimes resulted in deafness , blindness , and idiocy . Perhaps most important was the report of physician Samuel Merrifield Bemiss for the American Medical Association , which concluded cousin inbreeding does lead to the `` physical and mental depravation of the offspring '' . Despite being contradicted by other studies like those of George Darwin and Alan Huth in England and Robert Newman in New York , the report 's conclusions were widely accepted .
Cell-free fetal DNA
New generation sequencing may be used to yield a whole genome sequence from cffDNA . This raises ethical questions . However , the utility of the procedure may increase as clear associations between specific genetic variants and disease states are discovered .
Framingham Heart Study
However , clinically , despite these ( and other ) efforts , the aggregate effect of genes on cardiovascular disease risk beyond that of traditional cardiovascular risk factors has not been established until now .
Race and ethnicity in the United States
The Race , Ethnicity , and Genetics Working Group of the National Human Genome Research Institute notes that `` although genetic analyses of large numbers of loci can produce estimates of the percentage of a person 's ancestors coming from various continental populations , these estimates may assume a false distinctiveness of the parental populations , since human groups have exchanged mates from local to continental scales throughout history . ''
Plant breeding
Gregor Mendel 's experiments with plant hybridization led to his establishing laws of inheritance . Once this work became well known , it formed the basis of the new science of genetics , which stimulated research by many plant scientists dedicated to improving crop production through plant breeding .
Nation state
Huntington began his thinking by surveying the diverse theories about the nature of global politics in the post -- Cold War period . Some theorists and writers argued that human rights , liberal democracy and capitalist free market economics had become the only remaining ideological alternative for nations in the post -- Cold War world . Specifically , Francis Fukuyama , in The End of History and the Last Man , argued that the world had reached a Hegelian `` end of history '' .
Evidence of common descent
Once thought of as a refutation to evolutionary theory , atavisms are `` now seen as potent evidence of how much genetic potential is retained ... after a particular structure has disappeared from a species '' . `` Atavisms are the reappearance of a lost character typical of remote ancestors and not seen in the parents or recent ancestors ... '' and are an `` ( indication ) of the developmental plasticity that exists within embryos ... '' Atavisms occur because genes for previously existing phenotypical features are often preserved in DNA , even though the genes are not expressed in some or most of the organisms possessing them . Numerous examples have documented the occurrence of atavisms alongside experimental research triggering their formation . Due to the complexity and interrelatedness of the factors involved in the development of atavisms , both biologists and medical professionals find it `` difficult , if not impossible , to distinguish ( them ) from malformations . ''
Cousin marriage
Ahmad Teebi links the increase in cousin marriage in Qatar and other Arab states of the Persian Gulf to tribal tradition and the region 's expanding economies . `` Rich families tend to marry rich families , and from their own -- and the rich like to protect their wealth , '' he said . `` So it 's partly economic , and it 's also partly cultural . '' In regard to the higher rates of genetic disease in these societies , he says : `` It 's certainly a problem , '' but also that `` The issue here is not the cousin marriage , the issue here is to avoid the disease . ''
Myocardial infarction
Family history of ischemic heart disease or MI , particularly if one has a male first - degree relative ( father , brother ) who had a myocardial infarction before age 55 years , or a female first - degree relative ( mother , sister ) less than age 65 increases a person 's risk of MI .
Lyme disease
The evolutionary history of Borrelia burgdorferi genetics has been the subject of recent studies . One study has found that prior to the reforestation that accompanied post-colonial farm abandonment in New England and the wholesale migration into the mid-west that occurred during the early 19th century , Lyme disease was present for thousands of years in America and had spread along with its tick hosts from the Northeast to the Midwest .
Border Collie
Hip dysplasia , Collie eye anomaly ( CEA ) , and epilepsy are considered the primary genetic diseases of concern in the breed at this time . CEA is a congenital , inherited eye disease involving the retina , choroid , and sclera that sometimes affects Border Collies . In Border Collies , it is generally a mild disease and rarely significantly impairs vision . However , other eye conditions such as PRA slowly disintegrates the retina and can cause Border Collies to lose almost all of their vision at night which can progress into complete daytime blindness . There is now a DNA test available for CEA and , through its use , breeders can ensure that they will not produce affected pups . There are different types of hip testing available including OFA ( Orthopedic Foundation for Animals ) and PennHip . Radiographs are taken and sent to these organizations to determine a dog 's hip and elbow quality .