bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic analysis of C4 polymorphism by use of DNA amplification (PCR), allele‐specific oligonucleotide probes and allele‐specific restriction enzymes
Authors: BERG E. S. , TEISBERG P. , OLAISEN B. 
Published: September 2007

SUMMARYIn witro DNA amplification allows multiplication of selected gene segments thereby improving the sensitivity in DNA analysis. Different allelic variants in the amplified DNA may be disclosed either by subsequent hybridization with allele‐specific oligonucleotides or by subsequent allele‐specific digestion with selected restriction endonucleases, followed by separation in agarose gel electrophoresis.The genes that code for human complement component C4 are polymorphic. Presently we demonstrate that allelic differences in C4, involving one base pair only, can be efficiently identified in the amplified DNA by each of the two techniques. A combination of both techniques may also be employed. The DNA amplification procedure may give access to selected ‘haploid’ fragments for individual DNA studies.
Evidence for a human mitotic mutant with pleiotropic effect
Authors: PAPI L. , MONTALI E. , MARCONI G. , GUAZZELLI R. , BIGOZZI U. , MARASCHIO P. , ZUFFARDI O. 
Published: September 2007

SUMMARYMale and female sibs born to third‐cousin parents presented with mental retardation, microcephaly, short stature, juvenile onset limb‐girdle muscular dystrophy and multiple chromosome mosaicism in lymphocytes and fibroblasts. Different aneuploidies (mostly trisomies) were found in 15–20% of the cells and trisomies for the chromosome 8 and chromosome 7 predominated in lymphocytes and fibroblasts respectively, while monosomies were rare. Increased cellular death due to aneuploidy could explain symptoms such as mental and growth retardation and microcephaly. This could be an instance of an autosomal recessive mitotic mutant, possibly affecting a protein simultaneously involved in spindle apparatus and muscle function.
A new genetic polymorphism in the 16S ribosomal RNA gene of human motochondrial DNA
Authors: MEHTA A. B. , VULLIAMY T. , GORDON‐SMITH E. C. , LUZZATTO L. 
Published: September 2007

SUMMARYSequence analysis of the 3′ end of the 16s rRNA gene of mitochondrial DNA (mtDNA) revealed a single base change G ‐ A, at position 3010. This mutation was first identified in a patient who had recovered from chloramphenicol‐ induced aplastic anaemia (CAP‐ induced AA). A link between this mutation and CAP‐induced AA was ruled out by investigating three other similar patients, none of whom had the mutation. This mutation lies within or near the chloramphenicol binding site in a part of the 16S rRNA gene which shows high evolutinary conservation and where polymorphisms have not been previosuly reported. Hybridization tests with appropriate oligonucleotide probes in 114 individuals reveal that this mutation has polymorphic frequency of about 14% in Europeans.
Restriction fragment length polymorphism of human mitochondrial DNA in a sample population from Apulia (Southern Italy)
Authors: BENEDICTIS G. DE , ROSE G. , PASSRINO G. , QUAGLIARIELLO C. 
Published: September 2007

SUMMARYRestriction fragment length polymorphism (RFLP) of human mitochondrial DNA was analysed in a sample of 87 subjects from Apulia (South Italy) by the restriction enzymes HpaI, BamHI, HaeII, MspI, AvaII, and HincII using total blood cell DNA probed by human mtDNA from placenta. Five BamHI morphs were observed, two of which are new (BamHI‐4 and ‐5), as well as one new AvaII morph (AvaII‐28). The association BamHI‐4/AvaII‐28 enables us to demonstrate for the first time two polymorphic BamHI sites present together in the same mtDNA molecule. In agreement with historical data the Apulian sample has been shown to be the most heterogeneous Italian population so far tested.
Mitochondrial DNA polymorphism detected with the restriction enzymes BstNI and BclI in a French Canadian population
Authors: GÉLINAS Y. , TURCOTTE L. , BOUCHANRD C. , THIBAULT M‐C. , DIONNE F. T. 
Published: September 2007

SUMMARYThe enzymes BstNI and Bell were used to detect various human mitochondrial DNA RFLPs in a sample of 104 unrelated French Canadians. These sequence variations were found in total white blood cell DNA probed with whole human mitochondrial DNA. With BstNI, 6 mitochondrial DNA restriction patterns (morphs) were identified. BstNI morphs 2–6 each differ from morph 1 by one single distinct restriction site gain or loss on the mitochondrial DNA molecule. Although BstNI morph 1 was found in most of the subjects (80%), each other morph was observed at a frequency of at least 3%. With the enzyme BclI, 4 different morphs were detected. Morphs 2–4 also result from different single restriction site alteration as compared with BclI morph 1. The morph 1 was clearly the most frequent (95%) while morphs 3 and 4 were present in only 1% of the subjects. These data indicate that the enzyme BstNI and, to a much lesser extent, the enzyme BclI detect mitochondrial Dn'A polymorphism in Caucasians. They are therefore of interest for population genetics studies.
Recursive descent probabilities for rare recessive lethals
Authors: THOMPSON E.A. , MORGAN K. 
Published: September 2007

SUMMARYRecursively computed descent probabilities provide an effective way to evaluate possible ancestries of rare alleles segregating in large and complex genealogies, but they ignore information other than the descent to a small set of current gene copies. We show how descent probability computations can be modified to incorporate the fact that no ancestor can be affected by a lethal recessive trait. This methodology is applied to two rare recessive traits segregating in a complex Hutterite (Lehrerleut) genealogy.
Analysing rearrangement breakpoint distributions by means of binomial confidence intervals
Authors: VASARHELYI K. , FRIEDMAN J.M. 
Published: September 2007

SUMMARYNon‐randomness in the distribution of rearrangement breakpoints can be assessed by means of a binomial probability model. Using the binomial model, we compute confidence intervals for the observed number of breakpoints in chromosome bands and use these confidence intervals to test for non‐randomness in set of 452 constitutional rearrangement breakpoints. This method is useful because it describes the observed data and is not dependent on comparison with a pre‐existing hypothesis regarding the distribution.
Chromosomal mapping of a human phenol UDP‐glucuronosyltransferase, GNT1
Authors: HARDING D. , JEREMIAH S. J. , POVEY S. , BURCHELL B. 
Published: September 2007

SUMMARYA 5' fragment of a full‐length cDNA clone encoding a human phenol UDP‐glucuronosyltransferase was used to produce a specific probe for this gene. DNA isolated from a panel of 18 human‐rodent somatic cell hybrids was analysed by Southern‐blot hybridization. The results indicate that this UDP‐glucuronosyltransferase is encoded by a single gene, designated GNT1, located on human chromosome 2.
The gene for the α2 chain of the human fibrillar collagen type XI (COL11A2) assigned to the short arm of chromosome 6
Authors: LAW M. L. , CHAN S. D. H. , BERGER R. , JONES C. , KAO F. T. , SOLOMON E. , CHEAH K. S. E. 
Published: September 2007

SUMMARYA cosmid clone (CosHcol.11) containing the α2(XI) collagen gene (COL11A2) has been isolated. The gene contains conserved DNA and amino‐acid sequences characteristic of fibril forming collagen, which is in accordance with the classification of type XI collagen as a fibrillar collagen. The genomic clone containing the α2(XI) gene has been used as probe in the Southern blot analysis of DNA from a panel of human/hamster somatic cell hybrids containing different numbers and combinations of human chromosomes. Synteny analysis revealed that only chromosome 6 showed complete concordant segregation with C0L11A2. Furthermore, the gene was regionally mapped to the short arm of chromosome 6 by using a hybrid which contained only the long arm of the chromosome.
Surname versus gene structure of a small isolate
Authors: PRESCIUTTINI S. , PAOLI G. , FRANCESCHI M. 
Published: September 2007

SUMMARYA hierarchical partition of the Wright coefficient of inbreeding (F) is shown for an isolated population (about 2000 inhabitants) from a mountainous region of Tuscany (Italy) with regard to both surnames and genes. At total population level surname variation proves substantially consistent with the observed genetic differentiation of the isolate. Analysis of parental isonymy reveals that the population is structured in subunits and it is concluded that the unit population of the region may be very small, practically coinciding with the village (less than 500 inhabitants). The agreement of ‘demographic’ and genetic structures is less satisfactory at this level, partly because of subsample size, but we conclude that analysis of surnames may give at least a rough idea of the genetic structure of the population.
Wilson's disease in Israel: a genetic and epidemiological study
Authors: BONNÉ‐TAMIR B. , FRYDMAN M. , AGGER M. S. , BEKEER R. , BOWCOCK A. M. , HEBERT J. M. , CAVALLI‐SFORZA L. L. , FARRER L. A. 
Published: September 2007

SUMMARYClinical and family history data on persons affected with Wilson disease (WD) living in Israel between 1958 and 1984 were ascertained from the literature, hospital records and neurological and gastroenterological clinics. From this population of 51 families, representing a diversity of Middle Eastern, North African and European backgrounds, blood samples were collected from affected individuals in 21 families, their parents, sibs and other relatives for quantitative determinations of plasma copper and ceruloplasmin, liver tests and DNA analysis. Although the majority of patients have the hepatic form of the disease, hepatic and neurological cases were found among all ethnic groups. In fact, affected sibs in several inbred families who most likely inherited two copies of the same mutant allele had different symptoms. Gene frequencies were calculated for each of the populations taking into account inbreeding, probability of ascertainment, and estimated incidence. Although many of these communities have gene frequencies which are comparable to worldwide estimates, high prevalence of disease is maintained by consanguineous mating patterns. Probabilities of WND genotypes were calculated for 129 unaffected relatives who had an a priori risk of inheriting at least one WND allele using information from 10 DNA markers closely linked to the WND locus. There was no evidence that multiple loci are responsible for the observed clinical variability in this sample of families. Furthermore, studies of serum copper and ceruloplasmin levels in unaffected relatives suggest that phenotypic variability in WD may be due in part to an interaction of the WND locus with other genetic or non‐genetic modifiers such as age.
The human Y chromosome shows a low level of DNA polymorphism
Authors: MALASPINA P. , PERSICHETTI F. , NOVELLETTO A. , IODICE C. , TERRENATO L. , WOLFE J. , FERRARO M. , PRANTERA G. 
Published: September 2007

SUMMARYSix new Y‐specific probes have been isolated and are reported. Along with another six already described they have been used in a systematic search for male specific RFLPs. An overall number of 46515 nucleotides have been screened with 12 enzymes and no polymorphic pattern observed. Our data reveal a greatly reduced level of polymorphism compared with other chromosomes.
On avoiding statistical bias in linkage‐based counselling
Authors: RENWICK J. H. 
Published: September 2007

SUMMARYUsing the Succession Rule of Laplace (1795) and related reasoning, this paper shows how to give unbiased counselling to patients when predictions are to be based on small samples. The recombination fraction can be regarded as a probability parameter, θ, which itself has a probability distribution between the limits of 0 and 1/2. The probability of a recombinant, P(Rec), is not numerically equal to the maximum likelihood estimate of θ, nor is it numerically equal to the maximum posterior probability estimate in Bayesian inference. Rather it is equal to the infinite sum of all possible θ values, each weighted according to its probability density p(θ) which denotes the relative probability that that θ value is the true one.The various published proposals for obtaining an unbiased estimate of θ are shown to be equivalent one to another, except for the simplifying approximations used.
Mitochondrial DNA polymorphisms among Hindus: A comparison with the Tharus of Nepal
Authors: SEMINO O. , TORRONI A. , SCOZZARI R. , BREGA A. , BENERECETTI A. S. SANTACHIARA 
Published: September 2007

SUMMARYThe polymorphisms of mitochondrial DNA for the restriction enzymes Hpal, Bamill, Haell, Mspl, Avail and Hindi were studied in a sample of 79 Hindus, 45 from New Delhi (India) and 34 from Terai (Nepal), both to characterize another Caucasian population and to investigate some possible Hindu component in the genetic structure of the Tharus, a Nepalese population, the anthropological position of which is still disputed.1. A new BamHI polymorphism was detected; about 5 % of the Hindu mtDNAs have lost the site at 14258 bp and lack any BamHI site. Once again a BamHI polymorphism was found in a Caucasian population.2. New site mutations were found to yield morphs previously described (MspI‐7,AvaII‐18).3. Variant morphs for two different enzymes were found due to a shared mutation (morphs BamHI‐O/AvaII‐30 and morphs MspI‐7Hindu/AvaII‐18Hindu).4. Comparison between Hindu and Tharu data does not show any evidence of a specific Indian component in the Tharu genetic structure and allows us to conclude that Tharus are clearly differentiated from modern Hindus.
Genetic linkage between the Kell blood group system and prolactin‐inducible protein loci: provisional assignment of KEL to chromosome 7
Authors: ZELINSKI T. , COGHLAN G. , MYAL Y. , SHIU R. P. C. , PHILIPPS S. , WHITE L. , LEWIS M. 
Published: September 2007

SUMMARYThe Kell blood group locus (KEL) is tightly linked to the prolactin‐inducible protein locus (PIP) with &#x007a;̂=9.12 at ô= 0.00 for combined paternal and maternal meioses. In view of the regional localization of PIP to 7q32‐q36 (Myal et al. 1989a), a similar assignment for KEL is favoured.
Genetic similarity maps and immunoglobulin allotypes of eleven populations from the Pyrenees (France)
Authors: HAZOUT S. , DUGOUJON J. M. , LOIRAT F. , CONSTANS J. 
Published: September 2007

SUMMARYThe genetic heterogeneity of eleven populations from the Pyrenees (France) based on the polymorphism of the immunoglobulin allotypes is studied by means of a ‘genetic similarity map’. The method described here, called ‘Mobile Node Metho’, allows the deformation of a square grid, in which the studied region is represented, by moving the nodes at each step in order to reduce the difference between the geographic and genetic distances. This tool allows the overall quantification of the genetic heterogeneity of a population set and possibly the study of its dynamics. Other maps constructed to complete the interpretation are ‘map of moving vectors’, ‘iso‐displacement curves’ and ‘site displacements’. This study identified an overall genetic homogeneity among the Pyrenean populations and several local genetic heterogeneities in different regions.
Family data determine all parameters in Mendelian incomplete penetrance models
Authors: WHITTEMORE A. S. , KELLER J. B. , WARD M. J. 
Published: September 2007

SUMMARYWe show that data on the frequency of occurrence of an hereditary trait in family members can be used to determine all four parameters in a Mendelian genetic model with incomplete penetrance. Thus previous statements in the literature that such data can determine only three combinations of the parameters are incorrect.
Detection of the common alpha‐1‐antitrypsin variants by denaturing gradient gel electrophoresis
Authors: JOHNSON P. H. , CADIOU H. , HOPKINSON D. A. 
Published: September 2007

SUMMARYThe well‐characterized and highly polymorphic human alpha‐1‐antitrypsin (AAT) gene was used as a test locus to evaluate the general applicability of denaturing gradient gel electrophoresis (DGGE) for the detection of single base change polymorphisms. We report the resolution of all the major alleles, M1 Ala, M1Val, M2, M3, S and Z and the identification of substantial genetic polymorphism in intron 3–4 by this technique. DGGE was found to be a quick and efficient method for the screening of multiple samples for the presence of genetic variation.
Confirmation of the assignment of the vitronectin (VNRA) and fibronectin (FNRA) receptor α‐subunits
Authors: SPURR N. K. , ROOKE L. 
Published: September 2007

SUMMARYThe receptors for the extracellular structural components fibronectin and vitronectin each consist of two subunits called α and β. Using human‐rodent somatic cell hybrids and cDNA probes corresponding to the α‐subunits, we have confirmed the mapping of the fibronectin receptor (FNRA) to chromosome 12 and the vitronectin receptor (VNRA) to chromosome 2.
Gene maps and location databases
Authors: MORTON N. E. 
Published: September 2007

SUMMARYA location database is defined in linear space by a vector of genetic and physical locations for each locus, which may be ordered by virtual sorting on composite location. This contrasts with an interval database defined in metric space, for which location must be inferred by list‐processing from numbered intervals which are assigned different ordinals in different tables and overlap other intervals in many ways. A location database has been used for all well‐studied experimental organisms. Principles for a human genome database may be derived from this experience.
Antigenic analysis of the major human phosphoglucomutase isozymes:PGM1, PGM2, PGM3 and PGM4
Authors: Drago G. A. , Hopkinson D. A. , Westwood S. A. , Whitehouse D. B. 
Published: September 2007

SummaryThe cross‐reactivity of human phosphoglucomutase isozymes (PGMl, PGM2, PGMS and PGM4) has been investigated using anti‐rabbit muscle PGM polyclonal antibodies. Significant differepces were revealed: an IgG fraction of the antiserum reacted with the primary and secondary PGMl isozymes of all the common phenotypes. However, there was no reaction with the PGM2 or PGM3 isozymes; thus these latter isozymes share no major antigenic determinants with human or rabbit PGMl and are therefore structurally distinct. In contrast, the PGM isozymes of human milk attributed to a fourth locus, PGM4, showed similar cross‐reactivity as PGMl suggesting close structural similarity. The IgG was also employed as a'reagent to remove PGMl from haemolysates so as to allow the unambiguous assessment of the PGMS isozyme patterns by isoelectric focusing. However, no proven genetic variation was encountered in a sample of 32 individuals.
The gene for human neurone specific ubiquitin C‐terminal hydrolase(UCHLl, PGP9.5) maps to chromosome 4p14
Authors: Edwards Y. H. , Fox M. F. , Povey S. , Hinks L. J. , Thompson R. J. , Day I. N. M. 
Published: September 2007

SummaryUbiquitin carboxy terminal hydrolase 1, UCHLl, is a neurone‐specific protein involved in theubiquitin‐mediated proteolytic pathway. The gene for human UCHLl has been mapped tochromosome 4 using the polymerase chain reaction to amplify specifically the human UCHLl sequences in rodent/human somatic cell hybrid DNA. A regional assignment of this locus to4p14 has been made by in situ hybridization to metaphase chromosomes using both tritium andfluorescently labelled probes.
Genetic epidemiology of ovarian cancer: segregation analysis
Authors: Houlston R. S. , Collins A. , Slack J. , Campbell S. , Collins W. P. , Whitehead M. I. , Morton N. E. 
Published: September 2007

SummaryThe genetic epidemiology of ovarian cancer has been investigated by complex segregationanalysis of 462 pedigrees ascertained through a normal consultand. The observed pattern of ovarian cancer is compatible with an autosomal dominant gene. The gene frequency of the abhormal allele is 0–0015‐0‐0026 with a lifetime penetrance of 0.744.79. The gene frequency accounts for a significant proportion of ovarian cancer in young women. By age 70 the majority of affected women are phenocopies. The results from this analysis should enable the risks of ovarian cancer to be more accurately estimated than by empiric methods forrelatives of affected women, and can maximize the usefulness of screening programmes and future linkage studies.
Genetic epidemiology of complex phenotypes
Authors: Morton N. E. , Shields D. C. , Collins A. 
Published: September 2007

SummaryA theory is given for complex phenotypes represented by an ordered polychotomy separately for affected (as severity) and for normals (as diathesis), with consideration of history, ascertainment, sampling frames, and phenotype systems. Nonrandom selection of probands by severity is permitted. Both probit and logistic models are developed in a form compatible with segregation and/or linkage analysis. Probabilities are set out in detail in the Appendix. This approach avoids problems that have been encountered with quantitative traits and correlated phenotypes, although using this information.
The reliability of locus orderings
Authors: Edwards J. H. 
Published: September 2007

SummaryLocus orders are frequently presented in graphical form, supported by likelihood statements relating to less likely orders. Many imply genetic distances which are inconsistentwith the meiotic evidence, usually by a factor of about 2. While such orders may be the best possible on the data available, measures of their reliability are difficult: the common assumption that an order is correct because changes lead to less likely orders only relates to the subset of orders tested.It is only possible to deduce the order of any set of loci if a recombinant separates every pair. This usually requires a number of recombinants substantially exceeding the number of loci. Orders may be inferred from distance in the absence of consistent separation. However, if reasonable reliability is to be achieved, the number of meioses necessary to define distances with sufficient precision will be many times the number of loci. Someestimates of the minimum number of recombinants necessary for a correct ordering to achieve a probability of a half, the' half‐right ' solution, would be helpful. As a first approximation to this, we use the probability of no 'null gap', i.e. no pair of adjacent lociwith no recombination between them. Where the number of recombinant events is not available from counting, rough guidance can be given by estimating the number of equivalent meioses from lod scores.Where data are not available from homologies from other mammals or from pulsed‐fieldstudies, deductive methods of family analysis should be used, followed by pairwise optimizing methods for positioning. This will allow orders to be deduced independently for lociconveyed by the male and female gametes and provides a simple test of the procedure: if the orders are not identical a t least one must be wrong.