bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic polymorphism of esterase B3 in human leukocytes
Authors: COATES P. M. , CORTNER J. A. 
Published: September 2007

SummaryHuman tissues contain an esterase activity called ESB3, detectable by starch gel electrophoresis followed by staining with α‐naphthyl butyrate. Using mononuclear leukocytes, we demonstrated an electrophoretic variant of ESB3. Family studies suggest that the variant is inherited as a simple Mendelian trait; individuals with the ESB3 2‐1 phenotype are heterozygotes, designated ESB31ESB32, to distinguish them from the more common homozygotes, ESB31ESB31. The frequency of the ESB32 allele is estimated to be 0.035 in U.S. Whites. No homozygotes for this allele have yet been found.Our studies suggest that the enzyme from ESB3 1 individuals exists primarily as a trimer of three identical subunits with a molecular weight of approximately 58000 daltons. The genetic variant (ESB32 allele) appears to be the result of a mutation that does not affect the charge of the subunit, but rather reduces its ability to form and maintain the trimeric structure.
Assignment of the human gene for β‐glycerol phosphatase to chromosome 8
Authors: WILSON D. E. , PIZZO R. DEL , CARRITT B. , POVEY S. 
Published: September 2007

SummaryThe segregation of the human gene for β‐glycerol phosphatase (GPB) was examined in human‐Syrian hamster and human‐Chinese hamster somatic cell hybrids. Electrophoretic analysis of the GPB in hybrids suggested that the enzyme is a dimer. Human GPB cosegregated with chromosome 8 in the twenty‐five hybrids examined.
Mapping of the gene coding for the human liver/bone/kidney isozyme of alkaline phosphatase to chromosome 1
Authors: SWALLOW D. M. , POVEY S. , PARKAR M. , ANDREWS P. W. , HARRIS H. , PYM B. , GOODFELLOW P. 
Published: September 2007

SummaryThe gene coding for the liver/bone/kidney isozyme of alkaline phosphatase, ALPL, has been mapped to human chromosome 1 using a monoclonal antibody TRA‐2–54/2J and electrophoretic analysis to distinguish between the human and rodent isozymes in human/rodent somatic cell hybrids.
Regional localization of a human cytochrome P‐450 (CYP1) to chromosome 19q 13.1–13.3
Authors: DAVIS M. B. , WEST L. F. , SHEP HARD E. A. , PHILLIPS I. R. 
Published: September 2007

SummaryA phenobarbitone inducible cytochrome P‐450 gene family (CYP1) has recently been localized to chromosome 19q13.1‐qter. We have used a human liver cDNA probe in in situ hybridization experiments to metaphase chromosomes from two balanced translocation carriers, 46, XX, t(11;19) (q13;q13.1) and 46, XX, t(7;19) (q31.3;q13.3) to obtain a more precise localization. The results suggest a regional assignment for CYP1 to chromosome 19q13.1–13.3.
A speculative model for the Rh blood groups
Authors: TIPPETT P. 
Published: September 2007

SummaryTwo closely linked structural loci, D and ‘CcEe’, are proposed as the basis of the Rh blood groups. Mutation and unequal crossing‐over between the two loci at meiosis are considered as possible explanations for some rare Rh complexes. The theory predicts that complexes arising from unequal crossing‐over would be expected to have aberrant Rh polypeptides.
A method of subdividing genetic data into self‐contained subsets
Authors: LI C. C. 
Published: September 2007

SummaryA method of subdividing genetic data into self‐contained subsets has been described in terms of examples. The subsets are such that each of them permits a valid estimate of the parameter concerned. Hence, the discarding of one or more subsets would not affect the validity of the remaining data. The detailed statistical properties of such subsets await further investigation. There is a need to simplify the variance formulas for estimates based on partial data.
Mitochondrial DNA polymorphisms in Italy I. Population data from Sardinia and Rome
Authors: BREGA A. , SCOZZARI R. , MACCIONI L. , IODICE C. , WALLACE D. C. , BIANCO I. , CAO A. , BENERECETTI A. S. SANTACHIARA 
Published: September 2007

SummaryThe polymorphisms of human mitochondrial DNA were studied in about 150 Sardinians from Cagliari and 100 other Italians living in Rome, using total blood cell DNA and the following restriction enzymes: HpaI, BamHI, HaeII, MspI, AvaII and Hinc II.1. Seven different new morphs have been identified, one for Hae II, four for AvaII and two for Hinc II.2. 16 and 17 mtDNA types were observed in the Sardinian and Roman samples, respectively. Of these only seven were shared by both groups. The morphs BamHI‐3, MspI‐4 and AvaII‐9 were found associated at a frequency (100%) much higher than expected (0.17%).3. Sardinians can be differentiated from the other Italians for a higher frequency of both morph AvaII‐1(P < 0.05) and type 1 (2–1–1–1–1) (P0.03), and for a lower intragroup heterogeneity (0.52 v. 0.61).4. The Italian sample on the whole can also be differentiated from the Caucasian group previously examined for a lower frequency of BamHI morph 2 (PYates < 0.01), a higher frequency of HaeII morph 1 (PYates < 002) and for the presence at a non‐negligible incidence (5 inviduals out of 229) of the new type 57–2 (2–3–1–4–13–2).The data indicate that mtDNA polymorphisms have not only proved to be a useful tool in detecting differences among major human groups but they can also differentiate populations within the same major ethnic division.
The affected sib method. V. Testing the assumptions
Authors: LOUIS By E. J. , PAYAMI H. , THOMSON G. 
Published: September 2007

SummaryThe affected sib methods, which are used to make inferences about the genetic components of HLA associated diseases, have many underlying assumptions which may not always be realistic. These include no selective disadvantage of affected individuals, little or no recombination between the marker loci and the ‘disease’ locus, a single panmictic population, Mendelian segregation of the disease locus alleles and random distribution of individuals over environments. The effects of breaking these assumptions have been investigated. We have explicitly derived the haplotype sharing identity by descent (IBD) expectations for the cases of selection against affected individuals and recombination between the HLA marker loci and the ‘disease’ predisposing locus for affected sib trios (as was previously done for affected sib pairs). We have also derived, for both affected sib pairs and trios, the haplotype sharing expectations for non‐random mating (positive assortative), admixture, meiotic drive (of disease allele carrying haplotypes), and a random versus shared environmental component for sibs. In order to assess the sensitivity of the affected sib methods to perturbations in the assumptions, the expectation spaces of haplotype sharing in affected sib pairs and sib trios under the single diallelic locus model with varying penetrances and allele frequencies are fully described. The effects on haplotype sharing and subsequent disease parameter estimation are different for each of the factors we have considered. The affected sib methods are found to be robust in many situations.
The use of measured genotype information in the analysis of quantitative phenotypes in man.
Authors: BOERWINKLE E. , SING C. F. 
Published: September 2007

SummaryWe have begun a measured genotype approach to the genetic analysis of lipid and lipoprotein variability. This approach enables one to simultaneously estimate the frequencies and effects of alleles at specific loci along with the residual polygenetic variance component. In this study we consider the contribution of three common alleles at the locus coding for apolipoprotein E to interindividual variation of total cholesterol, betalipoprotein, and triglyceride levels. A sample of 102 nuclear families consisting of 434 individuals was studied. The frequencies of the ε2, ε3, and ε4 alleles in this sample are 0·137,0·740, and 0·123, respectively. In separate analyses of cholesterol and betalipoprotein levels, a complete model that includes the effects of the six apo E genotypes, unmeasured polygenes, and individual specific environmental effects fits these data significantly better than a reduced model that does not include the effects of the apo E polymorphism or a reduced model that does not include the effects of polygenes. On the average the ε2 allele lowers total cholesterol and betalipoprotein levels by 0·425 mmol/l and 0·811 units, respectively. The ε4 allele is associated with an average increase of these phenotypes by 0·255 mmol/l and 0·628 units, respectively. Simultaneous estimates of the interindividual variability of total cholesterol levels attributable to the apo E polymorphism and to residual polygenic effects are 8% and 56%, respectively. For betalipoprotein levels, we simultaneously estimate these values to be 7% and 42%, respectively. A reduced model including the effects of polygenes but not the effects of the apo E polymorphism fitted the triglyceride data as well as the complete model. The estimate of the fraction of interindividual variability associated with polygenetic effects was 26.5%. We review our present understanding of the genetic architecture underlying variability of cholesterol levels in the population at large and infer that the majority of the genetic variability may be accounted for by polymorphic gene loci with moderate effects on cholesterol levels.
The locus ordering problem
Authors: EDWARDS J. H. 
Published: September 2007

SummaryStudies of phenotypes defined by codominant alleles at two or more loci in three‐generation families allow haplotypes to be deduced. These data are easily summarized by the Mendelian convention of upper and lower case, with case defining phase rather than nature. In two‐generation families haplotypes may be inferred with high precision for closely linked loci even if an allele at one locus is recessive.Coding procedures are discussed and a simple solution to inferring the most likely order of three or more loci, and defining its likelihood compared with other orders, is presented.
The effect of non‐random migration on genetic differences between populations
Authors: ROGERS A. R. , JORDE L. B. 
Published: September 2007

SummaryModels of genetic population structure generally assume that emigrants from each local group are drawn at random from the set of individuals born there. We show that small violations of this assumption can have disproportionately large effects on genetic population structure, and we introduce a statistical method for measuring this effect.
Genetic studies of low abundance human plasma proteins VIII. Inherited structural variation in antithrombin III
Authors: KAMBOH M. I. , FERRELL R. E. 
Published: September 2007

SummaryGenetically determined structural polymorphism of antithrombin III has been observed using ultra narrow pH polyacrylamide isoelectric focusing gels, followed by immunoblotting. The products of three alleles at the antithrombin III structural locus have been detected in normal U.S. white and black blood donors. The frequencies of the three alleles, AT III*1, AT III*2 and AT III*3, respectively, are: 0.878, 0.103, 0.019 in whites and 0.916, 0.068, 0.016 in blacks. Family data from a large number of families establish an autosomal codominant pattern of inheritance of the three alleles.
Mitochondrial DNA polymorphisms in Italy II. Molecular analysis of new and rare morphs from Sardinia and Rome
Authors: BENERECETTI A. S. SANTACHIARA , SCOZZARI R. , SEMINO O. , TORRONI A. , BREGA A. , WALLACE D. C. 
Published: September 2007

SummaryA molecular analysis of morphs found in a previous survey of mtDNA restriction enzyme polymorphisms in Italy revealed that different site changes can give similar patterns and that the same mutation can yield variant morphs for apparently unrelated enzymes.1. Alternative site variations were found to yield restriction fragment patterns resembling HpaI morph 4, HaeII morph 5 and AvaII morph 2.2. A strong association was observed between the BamHI morph 3 (gain of site a) and the AvaII morph 9 and its derivatives (loss of site d). This association appears to result from an A to G transition at base pair (bp) 13368 which simultaneously creates a new BamHI site and abolishes an AvaII site. On the other hand, the loss of the AvaII site d, which in Italy was only found in the above‐mentioned association, does not always produce a new BamHI site, as observed in other Caucasian groups. Similarly, the Bam HI morph 2 (gain of site b) was always found to be associated with AvaII morphs lacking site f. An A to G transition at bp 16391 was shown to account for both changes. As in the previous case, the converse is not true. Hence, these data show that AvaII sites d and f were lost in more than one way and one of these seems to be typical of Caucasians.3. The variation producing BamHI‐3/AvaII‐9 and derivatives is preferentially associated with MspI morph 4 but this is not a product of a shared mutation. Hence, this association must be the result of the linkage disequilibrium due to the maternal inheritance of mtDNA and lack of recombination.4. The high frequency of the combination BamHI‐3/AvaII‐9 and derivatives with MspI‐4 found in Italy (29 subjects out of 229 analysed) can best be explained by diffusion of the relevant haplotype rather than by repeated mutational events.5. The phylogeny trees of all mtDNA morphs so far described and of mtDNA types in Caucasians have been revised taking into account both the inter‐ and the intra‐morph heterogeneity detected by this analysis.
Regional assignment of the gene coding for human sucrase‐isomaltase (SI) to chromosome 3q25‐26
Authors: WEST L. F. , DAVIS M. B. , GREEN F. R. , LINDENBAUM R. H. , SWALLOW D. M. 
Published: September 2007

SummaryThe gene coding for sucrase‐isomaltase (SI) has recently been mapped to chromosome 3 using a cDNA probe to analyse DNA from somatic cell hybrids (Green et al. 1987). We have now used this same cDNA probe to obtain a regional localization of this gene. In situ hybridization to normal metaphase chromosomes and to chromosomes from individuals with balanced translocations suggests a regional assignment to chromosome 3q25‐26.
Two methods for measuring the non‐randomness of chromosome abnormalities
Authors: BRAEKELEER M. DE , SMITH B. 
Published: September 2007

SummaryApplying conventional statistical techniques to cytogenetic data usually faces the problem of working with small numbers and many classes. We describe two techniques, one based on a binomial test procedure, the other on Monte Carlo simulations, aimed at studying the non‐randomness of chromosomal aberrations. Both techniques were used to study the distribution of breakpoints involved in variant Philadelphia translocations in chronic myeloid leukaemia. The results showed that 28 bands were non‐randomly rearranged (P 0.05). Furthermore, the probabilities calculated from the binomial test procedure were close to those calculated from the Monte Carlo simulations.
Origin of sex chromosome aneuploidy
Authors: MORTON N. E. , WU D. , JACOBS P. A. 
Published: September 2007

SummaryProbabilities applicable to RFLPs are derived for the genotypes of XXY, XXX, and XO children, conditional on their mode of origin and the parental mating type, and the theory is applied to family data on the XG locus. The proportion of XXY males arising in spermatogenesis is shown to be 0.41 ± 0.09. The large distance of XG from the centromere makes distinction between maternal meiosis I and II unreliable, but if man is like Drosophila, most of the maternal non‐disjunctions arise in meiosis I, among tetrads that have undergone one or more exchanges. Data from XG show that 0.78 ± 0.05 of XO females arise from an error involving the paternal sex chromosomes. The XG locus is virtually uninformative about the origin of XXX. Application of the theory to selected RFLPs will be much more incisive because of their large number, lack of dominance, greater heterozygosity, and distribution along the chromosome. Study of RFLPs will facilitate diagnosis of the parental origin of sex chromosome abnormalities and the comparison of recombination rates in regular and trisomic progeny of maternal mei I and mei II origin.A pseudocentromeric model that estimates map distances from exceptional progeny is applied to non‐disjunction of the X chromosomes in D. melanogaster, giving good recovery of the expected map and thereby validating this approach for RFLPs in man.
N‐ras‐like sequences on chromosomes 9, 6 and 22 with a polymorphism at the chromosome 9 locus
Authors: MIDDLETON‐PRICE H. , SPURR N. , HALL A. , MALCOLM S. 
Published: September 2007

SummaryTwo clones, pCN1 and pCN2, which together form full‐length cDNA for N‐ras, were used to search for restriction fragment length polymorphisms. pCN2, which entirely consists of 3′ non‐translated sequences, revealed more bands on DNA transfer hybridizations than could be accounted for using the known restriction map of N‐ras. None of the extra cross hybridizing sequences is located on chromosome 1. One of these sequences showed a high‐frequency two‐allele polymorphism with the restriction enzyme TaqI and maps to the short arm of chromosome 9. Of the remaining two sequences, one maps to chromosome 22 and the other maps to the short arm of chromosome 6. pCN1A, which contains the 5′ untranslated regions and all the coding exons of N‐ras only hybridized to the chromosome 1 site. No polymorphisms have been found for pCN1 with TaqI, MspI, BclI, BglI, EcoRI, BstXI, XbaI, BamHI, BglII or HindIII.
Diversity of some gene frequencies in European and Asian populations. IV. Genetic population structure assessed by the variogram
Authors: BARBUJANI G. 
Published: September 2007

SummaryIsolation‐by‐distance models of population structure predict an exponential decrease of genetic relatedness with distance. Under the Kimura‐Weiss (1964) model the plots of gene frequency variance versus distance (variograms), computed at various loci, are expected to have equal slope and reach a common asymptote. The gene frequency distributions at eight loci in 192 European and Asian populations have been summarized by variograms. On the average, the Kimura‐Weiss model seems to describe adequately allele frequency change up to 900 km, but gradients are apparent at greater distances for most markers studied. These patterns may result form either differential selection or long‐range gene flow; however, the extensive clinal variation observed for glyoxalase, esterase D and 6‐PGD cannot be entirely accounted for by the Neolithic radiation of early farmers in the Middle East and Europe.
Maternal age in trisomy
Authors: MORTON N. E. , JACOBS P. A. , HASSOLD T. , WU D. 
Published: September 2007

SummaryBy comparison with a more general theory, data on trisomy in live births, amniocenteses, and spontaneous abortions by year of maternal age are shown to fit a logistic augmented by a proportion independent of maternal age. The frequency of trisomy increases monotonically, with no discrepancy at extremely low or high maternal age. Trisomy 16 is exceptional in that all cases appear to be age‐dependent. For groups A, B, and C most trisomies arise by a process independent of maternal age. A small proportion of these trisomies and about half of trisomies for smaller chromosomes (excluding trisomies 16 and perhaps 22) originate by some process dependent on maternal (but not paternal) age and therefore presumably independent of crossingover, which in the female takes place before birth.
Detection of linkage between a quantitative trait and a marker locus by the lod score method: sample size and sampling considerations
Authors: DEMENAIS F. , LATHROP G. M. , LALOUEL J. M. 
Published: September 2007

SummaryA simulation study is here conducted to measure the power of the lod score method to detect linkage between a quantitative trait and a marker locus in various situations. The number of families necessary to detect such linkage with 80% power is assessed for different sets of parameters at the trait locus and different values of the recombination fraction. The effects of varying the mode of sampling families and the sibship size are also evaluated.
Linkage between the expressed hypervariable gene locus PUM and the gene coding for the Duffy blood group FY
Authors: SWALLOW D. M. , GRIFFITHS B. , NOADES J. , CORNEY G. 
Published: September 2007

SummaryLinkage is reported between the expressed hypervariable gene locus PUM and the gene coding for the Duffy blood group FY, with a maximum lod score of 4 at θ= 0. Linkage can be excluded between PUM and PEPC at a distance of 10 cm.
Close linkage of PUM and SPTA within chromosome band 1q21
Authors: MIDDLETON‐PRICE H. , GENDLER S. , MALCOLM S. 
Published: September 2007

SummaryNine families were examined for linkage on chromosome 1 between the hypervariable gene PUM and the α‐spectrin (SPTA) gene using DNA probes. Close linkage was found with a maximum lod score of 5.98 at θ= 0.05.Hybridization to DNA from somatic cell hybrids made from a parent line carrying a balanced X:1 translocation showed both genes to lie proximal to the breakpoint at 1q23. DNA hybridization to cell lines carrying deletions of 1q21–25 showed the presence of two polymorphic alleles for both loci. These results, combined with existing in situ hybridization data, suggest PUM and SPTA both lie within 1q21.Linkage analysis between PUM and the Duffy blood group (FY) gave a maximum lod of 2.15 at θ= 0.15. These data combined with data from another laboratory give a maximum lod of 5.21 for linkage between PUM and FY at θ= 0.10
Multipoint mapping and the emperor's clothes
Authors: MORTON N. E. 
Published: September 2007

SummaryOn the hypothesis of no interference, pedigree probabilities for segregating loci considered simultaneously factor into pairwise probabilities, and multipoint mapping reduces to multiple pairwise mapping. Under these conditions, use of a computer program such as linkage or mapmaker entails no gain but substantial loss (measured as map distortion, wasted data, concealed evidence, redundant calculation and exaggerated multiple recombination) by comparison with maps based on lod scores. This is illustrated by the current maps of chromosomes 1 and 2.
Isozyme and DNA analysis of human S‐adenosyl‐L‐homocysteine hydrolase (AHCY).
Authors: ARREDONDO‐VEGA F. X. , CHARLTON J. A. , EDWARDS Y. H. , HOPKINSON D. A. , WHITEHOUSE D. B. 
Published: September 2007

SUMMARYErythrocyte and tissue isozymes of human AHCY have been studied by starch gel electrophoresis, cellulose acetate electrophoresis, isoelectric focusing and Na dodecyl sulphate electrophoresis. The same isozyme was observed in all the tissues studied, suggesting that human AHCY is encoded by a single structural locus. Two variant alleles were identified in erythrocyte AHCY using starch gel electrophoresis in a sample of 166 unrelated individuals from the British population. The gene frequencies were 0–024 for AHCY*2 and 0.006 for AHCY *3. The variant isozyme patterns could not be distinguished by isoelectric focusing.Using the homologous rat cDNA AHCY probe, human AHCY cDNA recombinants were isolated from a placental cDNA library. The human and rat sequences show considerable homology in the coding region of the gene and also, but to a lesser extent, in the distal part of the 3′ untranslated region. Preliminary observations suggest the occurrence of a high frequency PvuII site RFLP identified with the human AHCY probe.