bluuebunny/crossref_metadata_2025_split huggingface dataset:
Human mitochondrial glycerol phosphate dehydrogenase (GPDM) isozymes
Authors: SHAW M. A. , EDWARDS Y. H. , HOPKINSON D. A. 
Published: September 2007

Summary

A hydrophobic/phospholipid electrophoretic system has been devised which makes possible the analysis of human mitochondrial glycerol phosphate dehydrogenase (E.C. 1.1.99.5, GPDM.
GPDM has a wide tissue distribution in both adult and foetal life and is active in cultured lymphoblastoid cells and fibroblasts but is absent from red cells.
The solubilization procedure does not significantly alter the kinetic properties of the enzyme (Kmα‐glycerophosphate = 0.04‐0.07 m, Km PMS = 0.19‐0.35 mm) but the soluble form is less thermostable.
Comparisons of physicochemical characteristics, tissue distribution and coenzyme requirement point to a separate genetic determination and low level of evolutionary relatedness between GPDM and its cytosolic counterpart GPDs.
Genetic risks for familial reciprocal translocations with special emphasis on those leading to 9p, 10p and 12p trisomies
Authors: STENE J. , STENGEL‐RUTKOWSKI S. 
Published: September 2007

SUMMARYAn analysis of genetic risks for reciprocal translocations is given. Data from translocation families, ascertained through unbalanced offspring with trisomy 9p, 10p and 12p, were taken from the literature. The translocations were specified according to (1) the type of trisomy, (2) the degree of resulting chromosomal imbalance (partial short arm trisomies, complete short arm trisomies, complete short arm trisomies including long arm segments) and (3) the type of disjunction (2:2 or 3:1) and segregation (adjacent‐1, adjacent‐2; tertiary trisomy, interchange trisomy). The risks for unbalanced liveborn offspring were high for translocations leading to partial short arm trisomies through 2:2 disjunction and adjacent‐1 segregation (25–29%). They were lower for translocations leading to complete short arm trisomies through the same disjunction/segregation mechanism (5–17 %). Low risks were obtained for translocations, leading through 3:1 disjunction to unbalanced offspring (about 2 %). For 2:2 disjunction and adjacent‐2 segregation and for 3:1 disjunction the risk is significantly lower for male than for female carriers. ‐ The frequency of balanced karyotypes compared with normal karyotypes deviated among the phenotypically normal offspring of parental carriers from the theoretical 1:1 ratio, both for translocations ascertained through trisomy 12p and trisomy 10p.– It was demonstrated that the genetic risk for reciprocal translocations depends exclusively on (1) the degree of possibly resulting genetic imbalance and (2) the probability of the disjunction/segregation mechanism leading to this type of imbalance. Both factors can be predicted from position of breakpoints. – The precision of breakpoint localizations and its impact on the risk estimation are also considered. — Finally, general rules for genetic counselling of families with reciprocal translocations are indicated.
Genetic studies on hydatidiform moles II. The origin of complete moles
Authors: LAWLER S. D. , POVEY S. , FISHER R. A. , PICKTHALL V. J. 
Published: September 2007

SUMMARYAn investigation of 50 histologically complete hydatidiform moles was by examining the molar tissue after termination of pregnancy. Attempts were made to study chromosomes and 11 polymorphic enzymes in the moles and in the blood of the patient and her spouse, although not all studies were possible on every case. Useful information about the origin of the mole was obtained in 28 cases. In no case was there evidence of a maternal contribution and in 14 cases a maternal contribution was definitely excluded. In 27 cases, including the 5 tested who have subsequently required treatment, the mole was homozygous for all genetic markers examined. There were 32 examples, arising in 21 moles, of loci homozygous in the mole where the male parent was known to be homozygous. There was a single example of a mole heterozygous at one proximal locus (PGM3).The findings are in favour of the doubling of a haploid genome as the most likely origin of the vast majority of complete moles.
Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole
Authors: JACOBS P. A. , SZULMAN A. E. , FUNKHOUSER J. , MATSUURA J. S. , WILSON C. C. 
Published: September 2007

SUMMARYOne hundred and six triploids were ascertained during a study of 1500 consecutive spontaneous abortions. The mechanism of origin of the additional haploid complement was investigated by comparing parental and foetal cytogenetic heteromorphisms and a histopathological examination of each triploid was done in a subsequent blind study.The mechanism of origin of the additional haploid complement was found to be highly correlated with the development of partial hydatidiform mole and with gestational age. All 51 paternally derived triploids in which a pathologic diagnosis could be made were partial moles, whereas only 3 of 15 maternally derived triploids on which a diagnosis could be made were molar. The mean gestational age of the paternally derived triploids was 122 days while that of the maternally derived triploids was only 74 days.It was suggested that the development of partial mole was primarily associated with the presence of two paternal haploid chromosome complements, the association with relatively long gestational ages being a secondary one consequent upon retention of the molar placentae for many weeks after foetal demise.
Chiasma derived genetic lengths and recombination fractions: chromosomes 2 and 9
Authors: LAURIE D. A. , PALMER R. W. , HULTÉN M. A. 
Published: September 2007

SUMMARYAn investigation of chiasma distribution in chromosomes 1, 2 and 9 in the human male has shown that each arm consistently has a characteristic and highly non‐random distribution of recombination. The chiasma frequencies of chromosome regions corresponding to the major mitotic bands have been used to construct genetic maps under the assumption that there is no chromatid interference or chiasma movement and no difference between meiotic and mitotic band positions. This paper presents genetic lengths and recombination fractions for these bands and for combinations of bands in chromosomes 2 and 9. Our results are particularly useful for relating genetic distance to recombination fraction and for dealing with long stretches of chromosome which cannot easily be analysed by any other techniques.
Exploration and mating range in African Pygmies
Authors: CAVALLI‐SFORZA L. L. , HEWLETT B. 
Published: September 2007

SUMMARYThe distributions of exploration range and of mating range were studied among Aka Pygmies of the Central African Republic. Exploration range is defined and methods of estimation for single individuals suggested. A simple exponential distribution is found for individual Aka Pygmies, with variation of exploration range (the parameter defining mobility) with sex, age and ethnic affiliation. Distribution of distances from birthplace and place of residence are compared and show modest differences. The frequency of visits to a given place has also been studied.The average distance between birthplaces of mates is very similar to the mean exploration range. Correlations between individual exploration and mating ranges suggest that it is the male who may be choosing a marriage partner among Pygmies. A theory by Boyce, Küchemann & Harrison (1967) on the relations between ‘neighbourhood knowledge’ and mating distance is inapplicable because of its reliance on the Pareto distribution, which does not apply in the present case, and of other unnecessary assumptions, but the general priciple of a close relationship between exploratory activity and mating distance seems valid, at least in the present case. Suggestions are made for causes of the difference between the present distributions and those with other shapes observed in less primitive economies.
A description of human aromatic α‐keto acid reductase
Authors: DONALD L. J. 
Published: September 2007

SummaryA reductase specific for aromatic α‐keto acids (KAR) is described. It is found in several human tissues, including red cell lysates and fibroblasts. In a population survey, one of 110 red cell lysates tested had a three banded isozyme pattern; this suggests that the enzyme has a dimeric structure and that its locus may be polymorphic. Analysis of KAR isozymes in a series of human/Chinese hamster somatic cell hybrids also indicated that the active enzyme has two subunits coded by a gene on human chromosome 12, probably very close to LDHB.
A genetic characterization of the human diaphorase‐4 deficiency
Authors: EDWARDS Y. H. , HOPKINSON D. A. , CARRITT B. 
Published: September 2007

SummaryAnalyses of DIA4 activity in cultured cells from a random population, a small family and human/rodent somatic cell hybrids support the view that the quantitative polymorphism of human DIA4 can be attributed to the segregation of a ‘low activity’ allele.(1) In a series of lymphoblastoid cell lines from 52 unrelated individuals, three lines were found which did not exhibit DIA4 after electrophoresis and showed low levels of NADPH diaphorase activity. The frequency (6%) of the DIA4 ‘absent’ phenotype is close to that (4%) determined previously by analysis of post‐mortem tissue.(2) Cultured fibroblasts from a small family in which the DIA 4 low‐activity allele was apparently segregating were analysed. The NADPH diaphorase activity of the propositus (DIA4 ‘absent’ phenotype) was very low (less than 6% of normal). He also exhibited very weak DIA4 isozymes of unusual electrophoretic mobility. The activity of both parents and sib was about half the normal level, suggesting that these individuals are heterozygous for the low‐activity allele.(3) Analysis of a series of independent human/hamster hybrid clones, made using a human parent heterozygous for phosphoglycolate phosphatase (PGP) and DIA4, suggested that in this particular individual the DIA 4 low‐activity allele segregates with the PGP 2 allele. However, there were 2 hybrids amongst a total of 16 which gave discordant results and these are to be the subject of further analysis by subcloning.
A recursive algorithm for inferring gene origins
Authors: THOMPSON E. A. 
Published: September 2007

SummaryKidd et al. (1980) studied the allelic origins of a recessive trait in an extensive and complex genealogy. Due to computational limitations, the hypotheses they could consider were limited, and the dependencies in descent from alternative ancestors and to different sibships were not considered. Karigl (1981) developed a recursive algorithm for the computation of multiple kinship coefficients. Here we show that very similar algorithms apply to probabilities of the joint descent of multiple genes from specified ancestral genes. This makes possible a far more extensive analysis of hypotheses of allelic origins in a genealogy.
HLA sharing in multiplex sibships
Authors: SUAREZ B. K. , CROUSE J. , EERDEWEGH P. VAN 
Published: September 2007

SummaryFor an arbitrary number of affected sibs with unaffected parents, the proportion that share both marker haplotypes identical by descent is derived for the generalized single locus model. This proportion is shown to depend on the underlying parameters of the disease transmission model, on the total sibship size and on the number of sibs who are affected. The variety of identity by descent patterns suggests that any attempt to infer the presence of other independent disease susceptibility loci solely on the basis of an observed inverse relationship between the degree of haplotype sharing and the number of affected sibs, is liable to result in spurious conclusions.
Relationship between levels of biochemical heterozygosity and morphological variability in human populations
Authors: KOBYLIANSKY E. , LIVSHITS G. 
Published: September 2007

SummaryThe relationships between the heterozygosity of the loci of biochemical and morphological traits were compared in seven Jewish populations. This comparison was based, on the one hand, on the average heterozygosity of seven biochemical loci (four blood group and two enzymatic ones) and, on the other hand, on five morphological characters. To assess the heterozygosity level for quantitative traits (normal distribution), we found it useful to measure h = CVμ, where CV is the coefficient of variation, and μ is the deviation of the population mean from the general average divided by the standard deviation of the general distribution. Actually, ‘h’ represents an inverse measure of the heterozygosity. Marked negative correlation was detected between the biochemical and morphological heterozygosity. This negative correlation was attributed to the convergent influence of inbreeding on different loci, but other possible mechanisms are discussed.
A genetic polymorphism of a human urinary mucin
Authors: KARLSSON S. , SWALLOW D. M. , GRIFFITHS B. , CORNEY G. , HOPKINSON D. A. , DAWNAY A. , CARTRON J. P. 
Published: September 2007

SummaryWe report here a novel genetically determined polymorphism of a human urinary mucin which is demonstrable by the separation technique of SDS polyacrylamide gel electrophoresis, followed by detection with radio‐iodinated lectins. The mucins are demonstrable using various lectins but the polymorphism is most easily recognized using peanut agglutinin and we therefore propose to designate this new genetic locus PUM (peanut‐reactive urinary mucin). Four common alleles have been identified and an autosomal codominant mode of inheritance has been found in the families studied so far.
Surnames in Sardinia
Authors: ZEI G. , MATESSI R. GUGLIELMINO , SIRI E. , MORONI A. , CAVALLI‐SFORZA L. 
Published: September 2007

Summary1. Distributions of surnames were examined using data from about 40000 individuals from consanguineous marriages (1930‐59) in the island of Sardinia. They fit the Karlin‐McGregor (1967) distribution for neutral alleles.2. The logarithmic distribution by Fisher (1943) and the Karlin‐McGregor (1967) distribution give practically indistinguishable fits to these data.3. The two parameters underlying the Fisher distribution, a and v, are fully interdependent, given the sample size N. From the latter and from the number of surnames S, they can be easily and satisfactorily estimated.4. The quantity a measures immigration to the area and can be taken as a measure of the richness of the gene pool, being closely related to the quantity θ=Neμ (Ne= effective population size, μ= mutation rate) after the necessary corrections have been taken care of.5. Surnames behave like genes transmitted by the male line. Differences of female and male migrations require correction for comparison with data from autosomal gene frequencies but there seem to be no important differences between female and male migration in this area, as judged by analysis of pedigrees of consanguineous marriages.6. It is probable that the migration estimates obtained in this material are lower than real ones, mostly because of a bias characteristic of the particular source of surnames here employed.7. The distribution of surnames from areas which have very recently undergone economic development is not at equilibrium and is not fitted as well as that of areas which have had less important recent changes. As might be expected, the disturbance is particularly marked in the class most sensitive to effects of recent increases in migration, that of rarest surnames (represented by only one individual). In fact in this material it is noticeable only in this class and correction can be made for it.8. At equilibrium of migration and drift, the number of surnames in a population sample of given size can give a complete description of the population structure for that sample, in the same sense that the number of alleles is a sufficient statistic for the study of neutral evolution. The study of surnames, given their nature of ‘neutral’ alleles, the large number of alleles and the ease with which large numbers of individual data can be collected, can be a valuable help in the study of genetic population structure.
DNA analysis in patients with hereditary fructose intolerance
Authors: Grégori C. , Besmond C. , Odievre M. , Kahn A. , Dreyfus J. C. 
Published: September 2007

SummaryRestriction fragments of the adlolase B gene were studied in 11 patients with hereditary fructose intolerance and compared with the normal pattern. No major deletion of the gene was observed. One patient was found to be a compound heterozygote since one allele with normal restriction sites was inherited from the mother and the other with an abnormal Barn HI site was inherited from the father. The anomaly of the Barn HI fragment observed in this family was not found in 62 normal controls from the same origin as the patient.
Parental age and unbalanced Robertsonian translocations associated with Down syndrome and Patau syndrome: comparison with maternal and paternal age effects for 47, + 21 and 47, + 13
Authors: Hook E. B. 
Published: September 2007

SummaryData are analysed on livebirths with trisomic syndromes associated with unbalanced Robertsonian translocations born from 1968 to 1981 and reported to the New York State Chromosome Registry. The maternal ages of reported cases were compared with those of the livebirths in the general population who were born in the same year. The number of translocations studied, the mean case‐control differences in years in maternal age (and the standard errors of the mean) were respectively, as follows:D/21 mutants, n= 36. – 0·1 (±0·9); G/21 mutants, n= 46, + 1·5 (±0·8); D/13 mutants, n= 16, + 0·6 (± 1·5); D/21 inherited, n= 12, – 1·0 (± 1·4); G/21 inherited, n= 3, – 0·3 (± 4·4); and D/13 inherited, n= 6, + 2·1 (± 2·4).There was little change in any category if the few cases diagnosed prenatally were included. Only the value for the G/21 mutants is significantly different from zero at the 0·05 level. (The results on G/21 mutants in maternal age are consistent with an earlier Japanese report of an increase of about 2 years over the control values.) The distribution of maternal ages suggests that G/21 mutants may be produced both by maternal age‐independent, and maternal age‐dependent components. The data on D/21 mutants, however, do not indicate the negative association with maternal age reported in Japan. Differences between this study and the Japanese study in analyses of controls may explain this slight variation. But in any event both studies reveal no evidence for an increase in maternal age for unbalanced D/21 mutant or D/21 inherited translocations associated with Down syndrome. This is evidence against the hypothesis that relaxed selection during gestation, after recognition of pregnancy, accounts for the maternal age effects of 47, + 21. In comparison with the results on Robertsonian translocations, the case‐control differences in maternal age in years (and the standard errors of the mean) for 47. + 21 for 2148 livebirths was + 4·6 (± 0·2), and for 2354 cases including those diagnosed prenatally was + 5·3 (± 0·2). The most likely value for an estimated total of 2292 cases of 47, + 21 livebirths that would have been reported in the absence of prenatal diagnosis was + 5·1 (± 0·2). For 47, + 13, for 98 livebirths the mean case‐control difference in maternal age in years was + 1·5 (± 0·7) and for 116 cases including those diagnosed prenatally was + 3·2 (± 0·7). The most likely value for an estimated 108 cases of 47, + 13 in the absence of prenatal diagnosis was + 1·7 (± 0·6). The data on 47, + 13 livebirths confirm suggestive trends from earlier studies at prenatal diagnosis that the maternal age association of this trisomy is weaker than for 47, + 21 or 47, + 18. With regard to paternal age effects, there was no evidence for case‐control differences in paternal age (after controlling on maternal age as well as year of birth) for any category of defect analysed.
Mutation and selection in the marker (X) syndrome A hypothesis
Authors: Vogel F. 
Published: September 2007

SummarySherman et at. (1984) concluded from a cytogenetic and genetic analysis of families with the marker (X) syndrome that the rate of the mutation leading to this syndrome is extraordinarily high (7×2 times 10–4 in male germ cells), and that these mutations occur exclusively in male germ cells. It is shown by some model calculations that the empirical evidence can be reconciled with more conventional assumptions on the mutation rate if a moderately increased fertility of clinically unaffected female and possibly male carriers in the past is assumed. Indirect evidence for such an increased fertility can be derived from old reports on higher reproduction of slightly subnormal individuals. On the other hand, complete compensation of gene loss in affected individuals by higher fertility of unaffected carriers appears to be rather unlikely. At present, a moderately high mutation rate – as found, for example, in Duchenne muscular dystrophy or haemophilia A – in combination with a moderately increased fertility of clinically unaffected carriers is the most likely alternative.
Linkage studies in Menkes' disease The Xg blood group system and C‐banding of the X chromosome
Authors: HORN N. , STENE J. , MÓLLEKAER A.‐M. , FRIEDRICH U. 
Published: September 2007

SummaryMenkes' disease is a rare, genetically determined disturbance of copper metabolism which is transmitted as an X‐linked recessive character. By comparative gene mapping it can be suggested that the most likely localization of the gene for Menkes' disease is on the long arm of the human X chromosome close to band q l3. This regional assignment is supported by the present analysis of the genetic relationship between the Menkes locus, the Xg locus, and the centromere in five Danish families. The evidence suggests close linkage between the Menkes locus and the centromere. The most likely value of the recombination fraction is 0·05 and the maximum lod score is above the conventional +3 limit. Linkage analysis of the Menkes locus and the Xg locus showed a recombination value of 0·24, but the maximum conditional lod score is 0·28, which is far below the conventional +3 limit. The present study demonstrates a successful application of a chromosomal morphological marker in linkage analysis and carrier detection of a single gene disorder. The close linkage between the gene for Menkes' disease and the centromere region was used to improve the classification of several females in whom the copper uptake into cultured fibroblasts was either inconclusive or not available.
β‐Adrenoceptor binding defects in cell lines from families with manic‐depressive disorder
Authors: WRIGHT A. F. , CRICHTON D. N. , LOUDON J. B. , MORTEN J. E. N. , STEEL C. M. 
Published: September 2007

SummaryBinding of 125I‐iodohydroxybenzylpindolol to β‐adrenoceptors has been examined in lymphoblastoid cell lines from members of 5 families affected by manic‐depressive disorder. Cell lines from 6 manic‐depressives, 7 unaffected relatives and 11 non‐psychiatric controls were examined. Binding was reduced to less than half of control values in cell lines from 4 out of 6 manic‐depressives and only 1 out of 18 unaffected relatives or controls. All the cell lines with reduced β‐adrenoceptor binding came from 3 families; members of the remaining 2 families showed normal binding. These findings suggest that genetic heterogeneity is present in manic‐depressive disorder and that a β‐adrenoceptor defect may influence genetic susceptibility to the disorder.