bluuebunny/crossref_metadata_2025_split huggingface dataset:
Differential inhibition of the products of the human alkaline phosphatase loci
Authors: MULIVOR RICHARD A. , PLOTKIN LARRY I. , HARRIS HARRY 
Published: September 2007

Summary1. Inhibition studies have been carried out on a series of ALPs derived from liver, bone, kidney, placenta and intestine, using L‐phenylalanine, L‐homoarginine, L‐leucine, L‐leucyl‐ glyoyl‐glycine and L‐phenylalanyl‐glycyl‐glycine as inhibitors.2. No differences between liver, bone and kidney ALPs with any of the inhibitors were observed.3. L‐phenylalanine and L‐homoarginine give a major degree of discrimination between liver/ bone/kidney ALP on the one hand, and placental and intestinal ALPs on the other. L‐leucyl‐glycyl‐glycine and L‐phenylalanyl‐glycyl‐glycine give a major degree of discrimination between placental ALP on the one hand, and intestinal ALP and liver/bone/kidney ALP on the other. L‐leucine discriminates between the three classes, but to a lesser degree. Minor degrees of discrimination between placental and intestinal ALPs occur with L‐phenylalanine and L‐homo‐ arginine and between intestinal and liver/bone/kidney ALPs with L‐leucyl‐glycyl‐glycine and L‐phenylalanyl‐glycyl‐glycine. By using an appropriate combination of inhibitors the ALPs can be separated into three clearly distinct categories: placental, intestinal and liver/bone/kidney.4. The six common placental ALP phenotypes as defined by electrophoresis show identical inhibition profiles with the series of inhibitors. The same profile was found for several rare electrophoretic variants. However, two rare electrophoretic variants (P‐1 87 and P‐92) each encountered once in a sample of 225 placentae, showed significantly deviant inhibitions with the various inhibitors and also differed from each other. From the electrophoretic patterns, both of these rare phenotypes appear to be heterozygotes. P‐I 87 probably corresponds to the so‐called D‐variant previously described. P‐92 represents a, new type of placental ALP variant with an aberrant inhibition profile. In both cases the par‐ ticular rare allele concerned evidently alters the primary structure of the enzyme so that it has an altered electrophoretic mobility and also an altered sensitivity to inhibition for each of the different inhibitors.5. Treatment of the various ALPs with neuraminidase to remove sialic acid residues does not affect their inhibition characteristics or activities.This work was supported by grants from the American Cancer Society, no. VC‐231; the National Cancer Institute, DHEW no. CA‐20296; the National Science Foundation, no. PCM76‐82997
The origin of human triploids
Authors: JACOBS P. A. , ANGELL R. R. , BUCHANAN I. M. , HASSOLD T. J. , MATSUYAMA A. M. , MANUEL B. 
Published: September 2007

Summarythe data using a maximum‐likelihood method was that 66.4 yo of the triploids were the result of dispermy, 23.6 % the result of fertilization of a haploid ovum by a diploid sperm formed by failure of the first meiotic division in the male and 10 % the result of a diploid egg formed by failure of the first maternal meiotic division. The possible sources of error inherent in the technique me reviewed and our results compared with previously published data.This work was supported by a grant from the Spencer Foundation, by grant no. 6–47 from the National Foundation and by grant no. HD 07879 from the National Institutes of Health. We are extremely grateful to Miss Shirley Yee of the Population Genetics Laboratory, University of Hawaii, for providing the maximum‐ likelihood estimates, and we thank Dr Kobara and the staff of the Pathology Department, the nursing staff of Kapiolani Hospital and Dr Julia Tsuei of the Department of Obstetrics and Gynecology without whose help in collecting the specimens the present study would have been impossible.
The generalized sib pair IBD distribution: its use in the detection of linkage
Authors: Suarez B. K. , Rice J. , Reich T. 
Published: September 2007

SummaryGeneral expressions for the distribution of identity by descent (IBD) scores at a marker locus have been derived given neither, one or both sibs affected with a disorder determined by a linked trait locus with arbitrary gene frequency and penetrance vector. It is shown that the distribution of IBD scores depends only on the additive and dominance variances and the population prevalence of the disorder.A one‐sided test is suggested as an appropriate means of statistically testing the hypothesis that the recombination fraction is significantly less than. This sib pair approach is designed primarily to detect the presence of a critical disease susceptibility locus but when the assumptions of the incompletely penetrant single locus model are correct the methodology proposed here results in consistent estimates of the recombination fraction. The affected sib pair methodology seems especially suited to traits determined by single loci with non‐Mendelian transmission.We wish to express our gratitude to Mr P. Van Eerdewegh and to Drs P. Fishman and S. Hodge for their many helpful comments and criticisms.This work has been supported by HEW grants MH 25430, MH 22521, MH 14677, MH 13002 and AA 00209.
Ancestral inference: I. The problem and the method
Authors: Thompson E. A. , Cannings C. , Skolnick M. H. 
Published: September 2007

SummaryA method for inferring the ancestral genotypes for the founders of a population is developed. This method uses the algorithms for the computation of probabilities on pedigrees of arbitrary complexity, developed by Cannings et at. (1978) and implemented by Thompson (19773). When characteristics are simply determined by underlying genotypes the inference problem is simplified, and larger and more complex pedigrees may therefore be analysed. The problem of estimating the allele frequencies to be used in computing prior genotype probabilities for those founders on whom a likelihood function is not required is discussed. The same method allows us to compute extinction probabilities for any combination of original founder genes; these probabilities are interesting parameters of pedigree structure, which, since they relate to the actual genes present in a population, help to provide a clearer understanding of observed distributions of autosomal traits.I am grateful to Dr A. W. F. Edwards and T. Beaty for comments on an earlier draft.
Segregation of ABO, AK1 and ACONS in families with abnormalities of chromosome 9
Authors: COOK P. J. L. , ROBSON E. B. , BUCKTON K. E. , SLAUGHTER C. A. , GRAY J. E. , BLANK C. E. , JAMES F. E. , RIDLER M. A. C. , INSLEY J. , HULTÉN M. 
Published: September 2007

SUMMARYSome families with abnormalities of chromosome 9 have been combined with others from the literature to show that AK1 and ABO must lie near the end of that chromosome. Current evidence suggests that both lie in band 9q34. MNSs, GPT and Gc can be excluded from chromosome 9.
Epistasis effect: an alternative to the hypothesis of linkage disequilibrium in HLA associated diseases
Authors: CLERGET‐DARPOUX F. , BONAÏTI‐PELLIÉ C. 
Published: September 2007

SummaryMany studies on diseases associated with the major histocompatibility system rest on the hypothesis of a genetic susceptibility locus closely linked with the HLA complex in linkage disequilibrium.An alternative model is proposed which assumes an epistasis effect between the disease gene and the HLA system. Such a model is shown to give familial distribution which may simulate genetic linkage in a sample.The results are illustrated using data on insulin dependent diabetes.
The effect of ignoring the correlation among siblings on the bias of the variance of a parent‐child regression coefficient
Authors: DONNER A. 
Published: September 2007

SummaryThe bias arising from ignoring the sib‐sib correlation ρ88 in estimating the variance of a parent‐child regression coefficient is investigated algebraically and using Monte Carlo simulation. It is found that the true variance can be seriously underestimated for moderate values of ρ88. Recommendations are given for removing this bias.
A collaborative study of the aetiology of Turner Syndrome
Authors: CAROTHERS A. D. , FRACKIEWICZ A. , MEY R. DE , COLLYER S. , POLANI P. E. , OSZTOVICS M. , HORVÄ K. , PAPP Z. , MAY H. M. , FERGUSON‐SMITH M. A. 
Published: September 2007

SummaryData on Turner Syndrome from four sources were analysed for possible associations with several aetiological factors. Two classes of liveborn propositae were included, those with a non‐mosaic 45, X karyotppe (XO) and those with an isochromosome of the long arm of the X (iso‐X). The numbers were 288 and 84 respectively and constitute the largest series of such cases to be analpsed t o date. For the XO's, an analysis using the liveborn full sibs of propositae as controls (method of Carothers et al. 1978) confirmed earlier studies in finding no positive association with parental age or birth order, and even suggested a small negative association. There were no significant differences between the mean parental ages of those cases shown by Xg grouping to have received a maternal X chromosome and those of the remainder. Among the iso‐X's there was an exceptionally high proportion (17.5 %) of parents with an age difference (paternal‐maternal) of 10 or more years, raising the possibility of a paternal age effect. This agrees with earlier studies but conflicts with the finding of a negligible tendency for affected inditiduals to be born later within their sibships. The apparent discrepancy may be due to the relative insensitivity of the latter method to small parental age effects in samples of this size. For the XO's there were no detectable seasona1 variations in the month of birth, but for the iso‐X's there was a significant excess of births in the first 6 months of the year.
A three‐allele model for heterogeneity of juvenile onset insulin‐dependent diabetes
Authors: HODGE SUSAN E. , ROTTER JEROME I. , LANGE KENNETH L. 
Published: September 2007

SummaryA three‐allele model is presented for the inheritance of ‘juvenile’ insulin‐dependent diabetes mellitus (IDDJI). The model postulates a susceptibility locus S tightly linked to the HLA complex. The model incorporates relative‐risk and HLA‐association data from the literature which suggest genetic heterogeneity within IDDM, together with population prevalence, twin and sib concordance rates, and distortions in HLA haplotype concordance values for affected sib pairs. The model appears to provide a reasonable fit to existing data. It predicts low penetrances for some, but not all, genotypes and a strong association between HLA B8 and one of the S alleles. The model makes additional specific predictions about how different forms of IDDX are distributed in sporadic and familial cases. These predictions can be tested in future genetic‐epidemiologic studies.
Relationship between single‐and multi‐locus measures of gene diversity in a subdivided population
Authors: CHAKRABORTY RANAJIT 
Published: September 2007

SummaryA mathematical relationship between the coefficient of gene diversity as derived from average single locus statistics and Smouse and Spielman's multi‐locus measure is established under the assumption of linkage equilibrium in a substructured population. A formula for estimating the average time of split of subpopulations from such gene diversity is also derived for the multi‐locus criterion. Unlike the estimate derived for single‐locus criterion, this estimate does not explicitely depend on the number of subpopulations. The method is illustrated with data on allozyme studies from the South American Indian populations.
Muscle phosphofructokinase deficiency in man: expression of the defect in blood cells and cultured fibroblasts
Authors: KAHN A. , WEIL D. , COTTREAU D. , DREYFUS J.‐C. 
Published: September 2007

SUMMARYUsing specific immunoprecipitation of M‐type phosphofructokinase and assay of immuno‐precipitate enzyme activity, it was possible to detect some M‐type enzyme in normal blood cells and fibroblasts, although this isozyme represents a very small part of total phosphofructokinase. White blood cells and cultured fibroblasts from a patient with hereditary muscle phosphofructokinase deficiency showed normal phosphofructokinase activity and electrophoretic pattern; direct immunoneutralization results were also normal. Nevertheless, it was possible to prove the defect in these cells using the immunoprecipitation method: no active immunoprecipitates could be obtained with anti M‐type antibody.Thepatient's red blood cells had a reduced phosphofructokinase activity which was only neutralized by anti L‐type antiserum. Total purification of partially deficient red cell phosphofructokinase confirmed that this enzyme only consisted of L‐type subunits while, under normal conditions, both L‐ and M‐type subunits are observed.The possibility of detecting specific enzyme defects in apparently non‐affected cells could be of practical importance, especially in prenatal diagnosis.
A comparison of the kinetic properties of the common and rare variants of adenosine deaminase
Authors: ROGERS P. A. , HOPKINSON D. A. 
Published: September 2007

SUMMARYAdenosine deaminase activity has been measured in red cells from individuals of known ADA phenotype (ADA 1, ADA 2‐1, ADA 3‐1, ADA 3‐2) using adenosine and 2′‐deoxyadenosine as substrates. No significant differences were observed among the phenotypes in their relative deaminase activity with the two substrates. However, evidence suggests the occurrence of an uncommon allele designated ADA1wdetermining low levels of ADA activity.The deaminase activities of the phenotypes were in the order ADA 1 > ADA 2‐1 > ADA 3‐1 > ADA 3‐2 with both substrates. The relative activities of the alleles were estimated to be: ADA1 100%, ADA2 89%, ADA3 28% and ADA1 67% with adenosine, and ADA1 100%, ADA2 87%, ADA3 39% and ADA1 66% with 2′‐deoxyadenosine.The Michaelis constants for adenosine and 2'‐deoxyadenosine were determined for the different phenotypes. There were no significant differences in these values among the phenotypes.
Electrophoretic analysis of glycoprotein enzymes in the sialidoses and mucolipidoses
Authors: SWALLOW D. M. , O'BRIEN J. S. , HOOGEVEEN A. T. , BUCK D. W. 
Published: September 2007

SUMMARYTen enzymes, all known to be glycoproteins, were examined by electrophoresis or gel isoelectric focusing in 12 different patients with primary or secondary sialidase deficiency. Aberrant electrophoretic mobilities of many of the enzymes attributable to abnormal sialylation were found in all the patients. In ten of the patients seven of the enzymes were affected. The unaffected enzymes were β‐galactosidase, alkaline phosphatase and β‐glucuronidase. In the cells from the two patients with I cell disease (mucolipidosis II) in which sialidase is one of many deficient enzymes, β‐galactosidase, α‐galactosidase, α‐fucosidase and α‐mannosidase were undetectable, alkaline phosphatase showed a normal electrophoretic mobility and acid phosphatase, adenosine deaminase, α‐glucosidase and β‐D‐N‐acetylhexosaminidase showed aberrant mobilities.
Natural selection associated with birth weight II. Stabilizing and directional components
Authors: ULIZZI L. , GRAVINA M. F. , TERRENATO L. 
Published: September 2007

SUMMARYThe differences of birth‐weight distributions before and after selection by the different components of perinatal mortality were studied for all single babies born in Italy in 1974. It was found that:(i) In mature babies the selection is mainly stabilizing while the directional type is almost negligible.(ii) In immature babies both stabilizing and directional selection are at work, greatly modifying the birth weight distributions.
δ‐aminolevulinate dehydrase: a new genetic polymorphism in man
Authors: BATTISTUZZI G. , PETRUCCI R. , SILVAGNI L. , URBANI F. R. , CAIOLA S. 
Published: September 2007

SUMMARYA method has been developed for the electrophoretic and quantitative analyses of human red cell δ‐aminolevulinate dehydrase (ALADH). The enzyme is under the control of an autosomal gene, with two common codominant alleles, ALADH1 and ALADH2, with frequencies of 0–89 and Oil, respectively, in the Italian population. Mean phenotypic enzyme activities are nearly identical: 52, 49 and 55 mlU/g Hb for ALADH 1, 2‐1 and 2 phenotypes respectively.
Natural selection associated with birth weight. III. Changes over the last twenty years
Authors: TERRENATO L. , GRAVINA M. F. , MARTINI A. SAN , ULIZZI L. 
Published: September 2007

SUMMARYDifferential stillbirth rates as a function of birth‐weight have been studied in all single births in Italy in the years 1954, 1961, 1967 and 1974. In the course of the twenty year interval of observation the following changes were found: (i) a progressive equalization of mortality in birth‐weight classes near the mean; (ii) a reduction of the directional component of selection which is parallel to the increase of mean birth‐weight (in the case of 8 months of pregnancy); (iii) a reduction of the stabilizing component of selection which is parallel to the decrease of birth‐weight variance (in the case of 9 months of pregnancy); (iv) a reduction of selection intensity, while selective mortality remains more or less unchanged. The modifications of natural selection associated with birth‐weight as a consequence of health care progress in this population are also discussed.
Pedigree analysis of Hodgkin's disease in a Newfoundland genealogy
Authors: THOMPSON E. A. 
Published: September 2007

SUMMARYAn extensive Newfoundland genealogy shows a large number of cases of lymphoreticular malignancies. A recessive pattern of inheritance had been previously suggested, but no quantitative investigation of the hypothesis was made. Here we have investigated a variety of aspects of the descent structure of the pedigree and shown that for only a subset of the traits can the inference be upheld. For Hodgkin's disease (HD) and generalized immunodeficiency (ID) there is clear evidence for a recessive HD/ID susceptibility allele. The remainder do not follow this pattern, show no evidence of a single‐locus effect and little of any genetic effect.The ancestry of the HD/ID cases was therefore investigated in detail, and likelihoods computed on the pedigree. These confirmed the recessive nature of the trait, as also did the risk analysis which quite clearly identified the paths of descent taken by the allele. The determination of these paths is a prerequisite for any linkage analysis which might further confirm the single‐locus nature of the trait.
Further genetic heterogeneity of human red cell phosphoglucomutase‐1: a non‐electrophoretic polymorphism
Authors: SCOZZARI R. , TRIPPA G. , SANTACHIARA‐BENERECETTI A. S. , TERRENATO L. , IODICE C. , BENINCASA A. 
Published: September 2007

SUMMARYThe electrophoretic patterns of human red cell phosphoglucomutase (PGM) were determined by standard starch‐gel electrophoresis on two aliquots of haemolysate, one of which was previously heat‐treated. Samples from 67 families and 417 unrelated healthy subjects were examined. Heat denaturation studies combined with electrophoresis showed a greater heterogeneity of phosphoglucomutase‐1 (PGM1) isozymes than that revealed by electrophoresis alone. Both the PGM} and the PGM? isozymes turned out to be either heat‐resistant (tr) or heat‐sensitive (ts) and this new phenotypic property segregated along with the electrophoretic allele with which it was originally associated. Comparison of red cell PGM1 patterns of 217 PGM12‐l heterozygous individuals, analysed both as described in this paper and by acid starch‐gel electrophoresis, which also distinguishes two common PGM11 (PGM11S and PGM11F) and two common PGM12(PGM12Sand PGM12F) allelic products, has shown that the two sets of four alleles do not coincide. Thus eight different PGM1 alleles were identified. The PGM11Str, PGM11Sts, PGM11Ftr, PGM11Fts, PGM12Str, PGM12Sts and PGM12Ftsgene frequencies were estimated as 0523,0–066,0099, 0–029, 0–224, 0–012, 0–043, 0–004, respectively.Three polymorphic sites are hypothesized within the PGM1 structural gene and the observed frequencies of the eight alleles discussed in terms of ‘disequilibrium’ among these sites.This is the second example of a human enzyme isoelectrophoretic polymorphism revealed by research specifically aimed at detecting electrophoretically cryptic genetic variations. The technique used in this study appears to offer a reliable means of detecting isoelectrophoretic variants for proteins already known to be electrophoretically polymorphic.
The origin of human trisomy: a study of heteromorphisms and satellite associations
Authors: JACOBS P. A. , MAYER M. 
Published: September 2007

SUMMARYThe origin of the additional chromosome was studied in 45 trisomic‐21 Down‐syndrome patients. In 17 patients the additional chromosome was maternal, in 2 it was paternal and in the remaining 26 the parental origin could not be determined. Acrocentric chromosome association was studied in parents of Down‐syndrome offspring and in parents of spontaneous abortions that were trisomic for an acrocentric chromosome. Parents of trisomic 16 abortuses and parents of triploid and chromosomally normal abortuses were used as controls. No increased association index was found for the specific acrocentric chromosome involved in the trisomy, either for the liveborn or for the aborted trisomies. However, the overall association index of the parent in whom the non‐disjunctional event leading to the acrocentric trisomy occurred was increased by comparison with that of the parent in whom non‐disjunction did not occur and with that of the controls. The reasons why we consider satellite associations to play an insignificant role in the aetiology of non‐disjunction are discussed.
A life table for onset of Huntington's chorea
Authors: NEWCOMBE R. G. 
Published: September 2007

SUMMARYAccurate quantitative assessment of risk in Huntington's chorea necessitates unbiased estimation of the distribution of age at onset. Previous studies have quoted the mean observed age at onset but this is biased, containing no contribution from heterozygotes who have not manifested the disorder by the study date. An iterative weighted life‐table approach is developed, which takes due account of such censored heterozygotes; it demonstrates a considerably older median age at onset than has hitherto been reported.
Evidence for linkage of type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1
Authors: GUILOFF R. J. , THOMAS P. K. , CONTRERAS M. , ARMITAGE S. , SCHWARZ G. , SEDGWICK E. M. 
Published: September 2007

SUMMARYInformation from English families confirms the probable linkage of the loci for type 1 hereditary motor and sensory neuropathy (HMSN) and the Duffy blood group. Lod scores are given for types I and II autosomal dominant HMSN and genetic markers in blood.
Linkage between dentinogenesis imperfecta and Gc
Authors: BALL S. P. , COOK P. J. L. , MARS M. , BUCKTON K. E. 
Published: September 2007

SUMMARYA large family with dentinogenesis imperfecta shows that this locus is linked to the Gc locus on chromosome 4q. The maximum lod score is + 7.9 at a male recombination fraction of 0.05 and female recombination fraction of 0.24.
New methods for the analysis of sex ratio data independent of the effects of family limitation
Authors: PICKLES A. R. , CROUCHLEY R. , DAVIES R. B. 
Published: September 2007

SUMMARYA stochastic model has been described which allows for arbitrary Poisson, Lexian and family limitation effects. This model not only provides a framework for hypothesis tests concerning the determinants of sex ratio data but provides parameter estimates of considerable interest. Application of the model to Renkonen's data suggests the presence of Lexian and family limitation effects but the absence of Poisson effects.