bluuebunny/crossref_metadata_2025_split huggingface dataset:
Tay–Sachs disease and the role of reproductive compensation in the maintenance of ethnic variations in the incidence of autosomal recessive disease
Authors: KOESLAG J. H. , SCHACH S. R. 
Published: September 2007

SummarySeveral deleterious and lethal autosomal recessive genes appear to exist in equilibrium with their normal alleles at a variety of stable, or near stable frequencies of considerable antiquity. One person in 25 is, for instance, a carrier of the Tay‐Sachs gene among Ashkenazi Jews, compared with 1 in 300 among Sephardic and Oriental Jews and non‐Jews. The explanations offered for t his phenomenon have generally not been entirely satisfactory.It has been shown that parents replace fortuitous infant and childhood deaths with, on average, approximately two surviving sibs each. When mutation rates are low, this practice, which has also been shown to occur among other animals, can maintain considerable variations in the stable incidence of autosomal recessive disease, should such ethnic polymorphism arise through genetic drift, the founder effect or hitch‐hiking. High mutation rates would appear to preclude ethnic variations in the stable incidence of genetic disease.
Mapping of the gene coding for the human GM2 activator protein to chromosome 5
Authors: BURG J. , CONZELMANN E. , SANDHOFF K. , SOLOMON E. , SWALLOW D. M. 
Published: September 2007

SummaryThe gene coding for the GM2 activator protein has been mapped to human chromosome 5, using an enzyme‐linked immunoadsorbant assay (ELISA) to identify the human protein in human‐mouse somatic cell hybrids.
Genetic and population structure of four Sardinian villages
Authors: PIAZZA A. , MAYR W. R. , CONTU L. , AMOROSO A. , BORELLI I. , CURTONI E. S. , MARCELLO C. , MORONI A. , OLIVETTI E. , RICHIARDI P. , CEPPELLINI R. 
Published: September 2007

Summary1. Data on microgeographic population structure on four neighbouring villages of Sardinia island (Italy) are presented and discussed.2. Two villages are located in the lowlands where malaria from Plasmodium falciparum was endemic until the eradication of paludism. The other two villages are located in the highlands and they were malaria‐free because of the altitude.3. Census data, inbreeding, migration matrices and surname distributions have been collected. The genetic differentiation of the four villages, tested for 31 genetic polymorphisms (106 alleles), is only in part compatible with migration rates inferred from demographic data.4. The possible adaptive nature of some genetic markers with respect to malarial resistance is discussed. Ambiguous results from population genetics quantitative methods do not support definite answers.
Differences in methylation on the active and inactive human X chromosomes
Authors: LINDSAY S. , MONK M. , HOLLIDAY R. , HUSCHTSCHA L. , DAVIES K. E. , RIGGS A. D. , FLAVELL R. A. 
Published: September 2007

SummaryMethylation of CCGG sites was examined in four regions of the X chromosome with four X‐chromosome clones, three obtained by cloning random segments and one encoding a structural gene. In DNA from human peripheral blood cells unmethylated sites correlating with the inactive X chromosome were detected in the vicinity of two of the random clones and also in the vicinity of a cloned sequence of the X‐linked phosphoglycerate kinase gene (PGK). The third random clone covered a region whose methylation pattern was unchanged between the active and inactive X chromosomes. Differential methylation at the sites detected appears to have no functional role in the maintenance of the inactive X chromosome since both active and inactive X chromosomes were found to be undermethylated in DNA from human lymphoblastoid cells.
Linkage between the loci for peptidase D and apolipoprotein CII on chromosome 19
Authors: BALL S. P. , DONALD J. A. , CORNEY G. , HUMPHRIES S. E. 
Published: September 2007

SummaryFamilies segregating for PEPD were investigated for linkage between PEPD and APOC2. The results provide evidence for close linkage between PEPD and APOC2 in males.
Localization of the oncogene c‐erbA1 immediately proximal to the acute promyelocytic leukaemia breakpoint on chromosome 17
Authors: SHEER D. , SHEPPARD D. M. , BEAU M. le , ROWLEY J. D. , ROMAN C. SAN , SOLOMON E. 
Published: September 2007

SummaryUsing in situ hybridization, c‐erb A1 has been mapped immediately distal to the translocation breakpoint on chromosome 17 in fibroblasts with a karyotype 46, XX, t(15;17)(q22;q11). Previous work has shown that c‐erbA1 is proximal to the translocation breakpoint on chromosome 17 in the t(15;17)(q22;q12–21) in acute promyelocytic leukaemia. The oncogene can therefore be localized to the region of chromosome 17 between the breakpoints in 17q11 and 17q12–21.
Further studies on bivalent chiasma frequency in human males with normal karyotypes
Authors: LAURIE D. A. , HULTÉN M. A. 
Published: September 2007

SummaryPreviously unpublished data on the chiasma frequency of individual bivalents identified by a triple staining technique are presented for four males. The total autosomal cell chiasma frequency and sex chromosome univalence frequency are also given for these males and for three others. All seven males had apparently normal 46, XY karyotypes and normal spermatogenesis. The extent of inter‐individual variation in cell and bivalent chiasma frequency and the gross relationship between chromosome length and chiasma frequency are discussed.
Human L‐xylulose reductase variation: family and population studies
Authors: LANE A. B. , JENKINS T. 
Published: September 2007

SummaryOnly one of the two main l‐xylulose reductases present in human tissue is deficient in individuals with essential pentosuria (Lane, 1985). The isozyme which is affected by the pentosuria mutation occurs as mitochondrial and cytosolic forms in normal individuals, whereas the other isozyme (which is not affected by the mutation) occurs only in the cytosol. A new assay of red cell l‐xylulose reductase activity has facilitated the identification of carriers of the essential pentosuria allele at both family and population levels. Reinvestigation of a Lebanese family in which pentosuria has previously been thought to be dominantly inherited reveals that the condition is recessively inherited in this family as well. A minimum estimate of the frequency of the pentosuria allele in an Ashkenazi‐Jewish population, calculated from the apparent heterozygote frequency, is 0·0127. The likelihood of the Ashkenazi and Lebanese pentosuria alleles being the same is discussed.
On the perpetuation of relic genes having an inviable homozygote
Authors: KOESLAG J. H. , SCHACH S. R. 
Published: September 2007

SummaryReproductive compensation may be prezygotic or postzygotic. Prezygotic compensation is the replacement of inviable infants by one or more additional births. When the marital fertility rates are greater than necessary to replace the parents, however, many traditional societies ensured that any surviving progeny in excess of two (on average) did not marry, or married only if they replaced an older sib as heir to the family estate. We call this postzygotic compensation. We show that the coefficient of biologically effective compensation approximates unity when normal and genetic‐disease‐affected sibships were both sufficiently large to ensure that, on average, two or more sibs survived to the end of the reproductive period, irrespective of the level of prezygotic compensation. The impact of these types of compensation on the population genetics of Tay‐Sachs disease and cystic fibrosis is discussed.
Males, Females and Hermaphrodites
Authors: Mittwoch Professor Ursula 
Published: September 2007

SummaryAncient myths of an hermaphrodite origin of man and his subsequent bisection into male and female individuals receive unexpected confirmation from the embryological evidence. The genital ridge contains the components to form either a testis or an ovary, while two sets of genital ducts are the forerunners of the male and female reproductive tracts. The presence of potentially hermaphrodite rudiments in different organisms resulted in the failure of attempts to formulate the determination of sex in terms of classical genetics. This, in turn, has led to the hypothesis that the function of the mammalian Y chromosome is to enhance the growth of the gonadal rudiment in male embryos. The hypothesis provides an explanation for the observed bilateral asymmetry of gonadal differentiation in human hermaphrodites in terms of the bilateral asymmetry of growth of human fetal gonads. The human condition can be related to the marked asymmetry of gonadal growth and differentiation in birds. The effect of temperature in the determination of sex in alligators has likewise been explained in terms of gonadal growth. The variety of sex‐determining mechanisms met with in vertebrates suggests a non‐sex‐specific effect adapted to specific biological needs. It is suggested that certain DNA sequences on the human Y chromosome act by enhancing the growth of somatic cells in the gonadal rudiment, leading to precocious differentiation of the testis.
The human type II collagen gene (COL2A1) assigned to 12q14.3
Authors: LAW M. L. , TUNG L. , MORSE H. G. , BERGER R. , JONES C. , CHEAH K.S.E. , SOLOMON E. 
Published: September 2007

SummaryA cosmid clone containing the entire human type II α1 collagen gene (COL2A1) was used as probe in the Southern analysis of DNA from a panel of human/hamster somatic cell hybrids containing different portions of human chromosome 12. Two of the hybrids exhibited a similar terminal deletion q14.3→qter, but one was positive for the gene while the other was negative. Therefore, the gene must reside in the region q14.3.
The C8A and C8B loci are closely linked on chromosome 1
Authors: ROGDE S. , OLAISEN B. , GEDDE‐DAHL T. , TEISBERG P. 
Published: September 2007

SummaryClose linkage was demonstrated between the loci governing the polymorphisms of complement component C8 α‐γ (C8A) and β (C8B). Both C8 loci were linked to the chromosome 1 marker loci PGM1 and Rh. The distance between the two C8 loci and PGM1 appeared identical in males and females. A female/male ratio of 1.6 was observed between the two C8 loci and Rh. No evidence for linkage between the C8 loci and Fy was found. Preliminary results of this study were presented at the Eighth International Workshop on Human Gene Mapping, Helsinki, August 1985 (Rogde et al. 1985b).
Chi‐squared tests with small numbers
Authors: SMITH C. A. B. 
Published: September 2007

SummaryThe usual advice given in standard texts is to combine classes when expected numbers are too small. It is suggested that an alternative would be to use the exact values of teh mean and variance of χ2, for which algebraic expressions are provided. The reliability of the test can be improved by using √χ2 instead of χ2 as the test criterion.
Secular trend of twin concordance in late fetal death
Authors: TERRENATO L. , NOVELLETTO A. 
Published: September 2007

SUMMARYIn the present paper the secular trend of twin concordance for late fetal death rate has been analysed. The results show that, while the correlation remains unchanged in MZ twins, it is greatly reduced in DZ twins. This renders untenable the assumption of comparable secular trends in the intrauterine environment of the two types of twins. An appropriate model is given for the estimation of the environmental (intrauterine) factors in late fetal death concordance, under the assumption of a wide range of frequencies for unconditional lethals.
Genetic polymorphism and fertility parameters in the Aymara of Chile and Bolivia
Authors: CHAKRABORTY R. , FERRELL R. E. , BARTON S. A. , SCHULL W. J. 
Published: September 2007

SUMMARYTo determine whether increased fitness in natural populations is associated with heterozygosity, several studies have attempted to correlate heterozygosity at one or a few genetic loci with fitness‐related quantitative traits. The results have been equivocal at best. Furthermore, data on fertility‐related parameters and the extent of genetic polymorphism at a large number of loci in man are quite scanty. This report examines the association of four fertility‐related parameters (number of pregnancies, number of livebirths, number of children surviving at least one year and number of children alive at the time of the survey) with heterozygosity at 17 polymorphic immunological and biochemical systems in the Aymara of Chile and Bolivia. Women 45 years of age and above, on whom complete fertility histories and phenotype data are available, were included in the study (n=190). None of the fertility parameters seem to be correlated with heterozygosity, as measured by the proportion of polymorphic loci. For some individual loci, however, an association between heterozygous state and fertility parameters exists. Even in these cases, heterozygosity did not always confer higher fertility. To see whether these negative results are due to heterogeneity in the data, the total sample was divided according to altitude of residence and ethnicity. The conclusions remained the same, indicating that the lack of association of these fertility parameters with genetic polymorphism is not due to population heterogeneity alone. Reproductive fitness differentials, therefore, were not detectable in the Aymara by heterozygosity determined by the polymorphic genetic systems scored by serological and electrophoretic techniques.
The association of HLA‐linked genes with systemic lupus erythematosus
Authors: GREEN J. R. , MONTASSER M. , WOODROW J. C. 
Published: September 2007

SUMMARYThe reported associations between HLA antigen DR3 and null (QO) alleles at the C4A and C4B loci and systemic lupus erythematosus are here analysed. The empirical logistic method has been applied to a body of data which included the relevant genotypes. The analysis suggests that the association with null alleles at the C4 loci is primary and the DR3 association is likely to be secondary to this. This may give information as to the location of the HLA‐linked disease susceptibility gene.
Localization of MIC5 to the region between HPRT and G6PD on the human X chromosome
Authors: HOPE By R. , GOSS S. , SOLOMON E. , ROPERS H.‐H. , BANTING G. , GOODFELLOW P. N. 
Published: September 2007

SummaryThe X‐linked gene, MIC5, encodes a human cell‐surface antigen, R1. We have assigned MIC5 to the region between HPRT and G6PD on the long arm of the X chromosome. Regional localization was based on the pattern of reactivity of the R1 monoclonal antibody with human‐rodent somatic cell hybrids which contained different fragments of the human X chromosome.
Expected genetic drift and observed gene variation in a small isolated human population
Authors: PRESCIUTTINI S. 
Published: September 2007

SummaryData on the gene frequencies of four blood groups and six polymorphic erythrocyte enzymes were collected in a small population of the Northern Apennines (municipality of Zeri, Tuscany, Italy), whose civic records are available from 1866 on. Starting from the assumption that the mean gene frequencies of large populations of the neighbouring regions may represent a good estimate of the frequencies of the ‘mother population’ of the isolate, an observed value of the standardized (‘Wahlund’) variance of gene frequencies was computed and found to be 0·0131. The expected value of the same variance, due to random drift, has been computed on the basis of an evaluation of the immigration to the isolate, drawn from the marriage register of the municipality: this value was 0·0103.
Chromosomal assignment of the gene encoding the human tissue inhibitor of metalloproteinases to Xp11.1–p11.4
Authors: SPURR N. K. , GOODFELLOW P. N. , DOCHERTY A. J. P. 
Published: September 2007

SummaryThe tissue inhibitor of metalloproteinases (TIMP) is thought to play a regulatory role in connective tissues by forming inactive complexes with those metalloproteinases that are normally responsible for connective tissue turnover. The human gene encoding TIMP has been mapped to the X chromosome in the region Xp11. 1–p11.4.
The LW: C3 recombination fraction in female meioses
Authors: LEWIS M. , KAITA H. , PHILIPPS S. , COGHLAN G. , McALPINE P. J. , COOPLAND G. R. , WOODS R. A. 
Published: September 2007

SummaryNo recombinants between LW and C3, using a C3 DNA probe, were observed in 16 female meioses: z 4·216 at θ= 0·00. Combined with the data of Sistonen (1984) the recombination fraction between LW and C3 is estimated to be 0.09 (&#x005a;̂ 3·773) in females.
Natural selection associated with birth weight V. The secular relaxation of the stabilizing component
Authors: ULIZZI L. , TERRENATO L. 
Published: September 2007

SummaryThe secular trend of stabilizing selection on birth weight has been studied during the last decades in 17 countries, representative of America, Asia and Europe. A relaxation of the intensity of selection is regularly observed, which can probably be attributed to a progressive reduction of the environmental component of birth weight variance.
The human α2(IV) collagen gene, COL4A2, is syntenic with the α1(IV) gene, COL4A1, on chromosome 13
Authors: SOLOMON E. , HALL V. , KURKINEN M. 
Published: September 2007

SummaryWe have previously assigned the gene for the αl chain of type IV collagen to chromosome 13. In this report we show that the gene coding for the second chain of this heterotrimer is on the same chromosome. This is the first example of the genes for both chains of one collagen molecule being syntenic.
Localization of the oncogene c‐erbA2 to human chromosome 3
Authors: RIDER S. H. , GORMAN P. A. , SHIPLEY J. M. , MOORE G. , VENNSTROM B. , SOLOMON E. , SHEER D. 
Published: September 2007

SummaryThe human c‐erbAl gene has been previously mapped to chromosome 17. We have now mapped c‐erbA2 to the short arm of chromosome 3, using a human genomic probe in Southern analysis of DNA from a panel of human/mouse somatic cell hybrids. In situ hybridization using the same probe on metaphase chromosomes has enabled fine chromosome mapping of c‐erbA2 to the chromosome region 3p21‐pter.
Characterization of a panel of highly variable minisatellites cloned from human DNA
Authors: WONG Z. , WILSON V. , PATEL I. , POVEY S. , JEFFREYS A. J. 
Published: September 2007

SummaryFive of the most variable loci detected in human DNA by hybridization with DNA fingerprint probes have been cloned and characterized. Each locus consists of a tandem‐repetitive minisatellite, with repeat units ranging in length from 9 to 45 base pairs depending on the locus. All of these cloned minisatellites act as locus‐specific hybridization probes, and detect extremely variable Mendelian loci with heterozygosities ranging from 90 to 99%. These five hypervariable loci, together with a previously‐isolated minisatellite designated pΛg3, are dispersed over four autosomes (chromosomes 1, 5, 7 and 12). Syntenic pairs on chromosomes 1 and 7 show no detectable pair‐wise linkage, and thus these hypervariable loci show no evidence of clustering within the genome and should provide valuable markers for mapping inherited disease. The locus‐specific minisatellites act as very sensitive hybridization probes, and can be pooled to detect several hypervariable loci simultaneously. The applications of these probes in individual identification, paternity testing and analysis of cell chimaerism are discussed, and are illustrated by an analysis of forensic specimens from two victims who had been sexually assaulted and murdered.We are very grateful to Professor J. Dausset and Dr H. Cann at the Human Polymorphism Study Centre, Paris. for the generous provision of DNA samples from the panel of CEPH families, to Dr Mary Davis for providing DNA from the JDA hybrids, and also to the following people who kindly allowed us to use their hybrids. Dr Ellen Solomon. Dr Nigel Spurr. Dr P. Goodfellow, Dr Denise Sheer, Dr John Cowell and Dr Ben Carritt. We also thank Anabel Kearney who did the enzyme analysis on the hybrids, and Lynne West who did the karyotyping. We are also grateful to the Leicestershire Constabulary for their permission to cite details of the forensic analysis. A.J.J. is a Lister Institute Research Fellow, and this work was supported by a grant to A.J.J. from the Medical Research Council. The minisatellite probes are the subject of Patent Applications, and commercial enquiries should be addressed to the Lister Institute of Preventive Medicine, Brockley Hill, Stanmore. Middlesex, H A7 4JD, U.K.
Frequency and distribution of rare electrophoretic mobility variants in a population of human newborns in Ann Arbor, Michigan
Authors: MOHRENWEISER H. W. , WURZINGER K. H. , NEEL J. V. 
Published: September 2007

SummaryWe have summarized the frequency and distribution of the rare variants encountered during the screening of 258 815 allele products, the products of 51 different loci, in 3242 predominantly Caucasian (88 %) newborns. Seventy‐nine different rare variants, representing 187 occurrences, were identified. Almost 60 % (46 of 79) of the rare variants occurred as singletons while another 20 % were seen in two unrelated individuals. No rare variants were detected at 18 loci while no variants, either rare or polymorphic, were detected at 14 loci. More rare variants were identified at loci that were classified as polymorphic and also at loci where the gene products exist as a monomer. A positive relationship was observed between variant frequency, either classes or copies, and subunit molecular mass.
Diversity of some gene frequencies in European and Asian populations. III. Spatial correlogram analysis
Authors: BARBUJANI G. 
Published: September 2007

SummaryThe gene frequencies at eight loci in some European and Asian human populations have been subjected to spatial autocorrelation analysis, using Geary's c coefficient. Contrary to what is expected for markers affected only by gene flow and genetic drift, the spatial correlograms show distinct modes of gene frequency variation: there are significant clinal patterns (at the GLO and ESD loci), significant non‐clinal patterns (AK, ADA, 6‐PGD and GPT) and marginally significant patterns (PG0P and SGD). Any hypothesis on the evolution of these polymorphisms should account for the observed heterogeneity of their geographical distributions.
Rhodanese isozymes in human tissues
Authors: WHITEHOUSE D. B. , PILZ A. J. , PORTA G. , HOPKINSON D. A. 
Published: September 2007

SummaryAn investigation of a range of tissue homogenates by various electrophoretic methods, followed by staining for specific enzyme activity, has revealed a series of isozymes of human rhodanese. Polyacrylamide gel isoelectric focusing provided the most data and rhodanese activity was found in all of the tissues examined. The simplest isozyme pattern was found in red cell lysates; liver homogenates generated the most complex pattern which included the ‘red cell’ forms together with a set of more basic ‘tissue’ isozymes. Variation in isozyme patterns thought to be attributable to storage changes affecting reactive sulphydryl residues was observed in ‘red cell’ rhodanese but no genetic variants of either ‘red cell’ or ‘tissue’ rhodanese were encountered in a study of material from the European population. We conclude that ‘red cell’ and ‘tissue’ rhodanese are determined by separate genes but more than one locus may be concerned with the synthesis of the heterogeneous ‘tissue’ isozymes.
The assignment of the human gene coding for complement C5 to chromosome 9q22‐9q33.
Authors: JEREMIAH S. J. , WEST L. F. , DAVIS M. , POVEY S. , CARRITT B. , FEY G. H. 
Published: September 2007

SummaryThe presence or absence of the human gene for the fifth component of complement (C5) was analysed in 19 human‐rodent hybrid cell lines by hybridization to a radiolabelled probe derived from a human C5 cDNA clone. The segregation of C5 in these hybrids suggested that the gene is localized on chromosome 9, in the region 9q21‐9qter. In situ hybridization refined the assignment of C5 to chromosome 9q22‐33.