bluuebunny/crossref_metadata_2025_split huggingface dataset:
The role of kin‐structured migration in genetic microdifferentiation
Authors: FIX ALAN G. 
Published: September 2007

SUMMARYMost current models of human population structure view migration solely as a deterministic force reducing the variance in gene frequencies among the local colonies of a subdivided population. By an empirical example and through simulation experiments, it is shown that migration structured along kinship lines (by analogy to the lineal or ‘kinship’ effect) does not always reduce the variances of gene frequencies arising through intergenerational random genetic drift. Thus populations experiencing high rates of migration may not be genetically homogenous.
A cytogenetic study of 1000 spontaneous abortions
Authors: HASSOLD T. , CHEN N. , FUNKHOUSER J. , JOOSS T. , MANUEL B. , MATSUURA J. , MATSUYAMA A. , WILSON C. , Yamane J. A. , JACOBS P. A. 
Published: September 2007

SummaryCytogenetic analysis of 1000 spontaneous abortions showed 463 to have an abnormal chromosome constitution. The proportion of chromosome abnormalities varied with the gestational age of the abortus and the type of tissue cultured but was not significantly different among the five racial groups represented in the study population. It was suggested that differences in the rate of chromosome abnormalities among cytogenetic studies of spontaneous abortions were the result of methodological differences in sample selection rather than real biological variation among study populations. The only factor found to be unequivocally associated with the aetiology of chromosome abnormalities in spontaneous abortions was increasing maternal age in trisomies.
The position of the Radin blood group locus in relation to other chromosome 1 loci
Authors: LEWIS M. , KAITA H. , PHILIPPS S. , GIBLETT E. R. , ANDERSON J. E. , McALPINE P. J. , NICKEL B. 
Published: September 2007

SummaryData are presented which indicate that the Radin blood group antigen is governed by a locus, for the present called Rd, which is located between PGM1 and αFUC Rh, and is either very closely linked to or identical with Sc.
An empirical test of the two‐threshold model of disease transmission
Authors: PAULS D. , SINGER S. 
Published: September 2007

SummaryRecent research on diabetes mellitus has revealed the existence of at least two independent subtypes. The multifactorial analysis method suggested by Reich & co‐workers (1972) for testing the independence of transmission between subtypes of a complex disorder agrees with this distinction. These techniques were also sensitive to the non‐unitary nature of the mental retardation within a sample of subjects drawn from the data set of Reed & Reed (1965). Therefore, we believe that this analysis could be a valuable adjunct to the limited repertoire of methods currently available to psychiatric researchers for dealing with issues of differential diagnosis.
The MNSs blood groups of families with chromosome 4 rearrangements
Authors: COOK P. J. L. , LINDENBAUM R. H. , SALONEN R. , CHAPELLE A. DB LA , DAKER M. G. , BUCKTON K. E. , NOADES J. E. , TIPPETT P. 
Published: September 2007

SUMMAEYLinkage analyses of the MNSs groups of families with chromosome 4 rearrangements support the assignment of the MNSs locus to chromosome 4 in the region q28‐q31.
The Gm‐Pi linkage heterogeneity in view of Pi M subtypes
Authors: JR T. GEDDE‐DAHL , FRANTS R. R. , OLAISEN B. , ERIKSSON A. W. , LOGHEM E. VAN , LAMM L. 
Published: September 2007

SUMMARYIn this study linkage between the loci for Gm (γ‐type heavy‐chain immunoglobulin markers) and Pi (α1‐antitrypsin/α1‐protease inhibitor) has been shown in families segregating for the Pi M subtypes (Ml, M2, M3 and Msal) as identified by separator isoelectric focusing. The estimate for the Gm‐Pi (M‐type) recombination is 0‐29 (95% limits 0‐24‐O37) at a peak lod score of 4‐31 and with no sex difference. This value is not significantly different from updated recombination frequency estimates for Gm‐Pi in Pi MS (0‐26) and Pi MZ, SZ and FZ families (0 21). The overall Gm‐Pi recombination fraction estimate of 0 26 (95 % limits O23‐0‐30) at a peak lod score of 20‐75 must now be considered as solid. There is a significant heterogeneity within the male Pi MZ families in that the new Finnish families show a higher recombination between Gm and Pi. There is also a possible segregation distortion (Z:M= 23:8). The heterogeneity is discussed in terms of haplotypes, the behaviour of which could be determined by linked genes or chromosomal rearrangements. The possibility that the α1‐antitrypsin level influences recombination frequency has not been ruled out, but cannot explain the heterogeneity within Pi MZ families.
Juvenile insulin‐dependent diabetes: a possible susceptibility gene in interaction with HLA
Authors: CLERGET‐DARPOUX F. , BONAÏTI‐PELLIÉ C. , DESCHAMPS I. , HORS J‐ , FEINGOLD N. 
Published: September 2007

SUMMARYA model with a susceptibility gene unlinked to HLA but in interaction with this system is shown to fit the data on familial distribution in 30 multiplex families of juvenile insulin‐dependent diabetes.
The biochemical genetics of human γ‐aminobutyric acid transaminase
Authors: JEREMIAH S. , POVEY S. 
Published: September 2007

SUMMARY1. Two methods have been devised for the detection after electrophoresis of γ‐aminobutyric acid transaminase (GABAT) isozymes.2. GABAT isozymes can be detected in liver, brain, kidney, pancreas, heart, testis, spinal cord and upper jejunum. The greatest activity occurs in liver.3. Three different commonly occurring electrophoretic types of GABAT have been identified. It seems likely that they are determined by two alleles at an autosomal locus (GABAT).4. The gene frequencies of GABAT1 and GABAT2 in a random sample of European livers were 0.56 and 0.44 respectively.5. The three banded patterns seen in heterozygotes suggest that GABAT is a dimeric enzyme.6. GABA, β‐alanine and 5‐aminovaleric acid can act as substrates for GABAT.7. GABAT activity can be demonstrated in all areas of human brain with the exception of the corpus callosum. Brain samples from patients with Huntington's chorea show no abnormal GABAT activity or unusual phenotypes.
Deficiency of malic enzyme: a possible marker for malignancy in lymphoid cells
Authors: POVEY S. , JEREMIAH S. , ARTHUR E. , BER R. , FIALKOW P. J. , GARDINER E. , GOODFELLOW P. N. , KARANDE A. , KLEIN G. , QUINTERO M. , STEEL C. M. , ZEUTHEN J. 
Published: September 2007

SUMMARYSoluble malic enzyme (MES) has been examined in long‐term human lymphoid cell lines cultured from 101 individuals. In 65 out of 66 lines derived from people without lymphoreticular malignancy the enzyme was very active. Lines established from 35 individuals with various forms of lymphoreticular malignancy were also examined, including in some cases more than 1 line derived from the same patient. In all cases where the cell line was thought to be derived from normal cells MES was active, but in 27 out of 29 lines thought to be derived from malignant cells (from 25 patients) MES was not detected. In the case of two patients with chronic lymphatic leukaemia ‘normal’ lines active for malic enzyme, and ‘leukaemic’ lines lacking malic enzyme, had been cultured from the same individual. Preliminary investigations of the lack of malic enzyme in somatic cell hybrids derived from lymphoma and leukaemia cell lines are compatible with an alteration at the level of the structural locus MES on chromosome 6. However, the restoration of MES activity in one line by fusion with mouse teratocarcinoma cells suggests that the alteration may be of a regulatory nature.
Multiple genetic relationships: joint and conditional genotype probabilities
Authors: Karigl G. 
Published: September 2007

SUMMARYLi and Sacks derived joint and conditional genotype distributions for two relatives, neither of whom is inbred, by means of three basic stochastic matrices. These results have been generalized by Jacquard to handle consanguinity in the pedigree. It is the aim of this paper to extend the approach based on the concept of identity states to arbitrary multiple relationships. Joint and conditional genotype and phenotype probability distributions are derived for any number of individuals and applications to situations with up to three individuals are considered.
Glucose‐6‐phosphate dehydrogenase deficiency: genetic heterogeneity in Sardinia
Authors: FENU M. P. , FINAZZI G. , MANOUSSAKIS C. , PALOMBA V. , FIORELLI G. 
Published: September 2007

SUMMARYGlucose‐6‐phosphate dehydrogenase (G6PD) was partially purified from red blood cells of 44 Sardinian males with severe enzymatic deficiency and the variants characterized chromatographically and biochemically to see if there is genetic heterogeneity of the enzyme in Southern Sardinia. Three different variants associated with severe G6PD deficiency were identified: the common G6PD Mediterranean variant; G6PD Sassari, recently described by Testa et al. (1980), and a new variant that we have designated G6PD Cagliari. Family studies were carried out to demonstrate that these variants are due to the presence of different alleles.
Chiasma derived genetic maps and recombination fractions: chromosome 1
Authors: HULTÉN M. A. , PALMER R. W. , LAURIE D. A. 
Published: September 2007

SUMMARYChiasma distribution data from six human males have been used to calculate genetic distance and recombination fraction for chromosome 1. Estimates given for each major chromosome band are valid only under the assumption that there is no chromatid interference, no chiasma movement, and no differential chromosome contraction between mitosis and meiosis.
Molecular studies of liver aldolase B in hereditary fructose intolerance using blotting and immunological techniques
Authors: GRÉGORI C. , SCHAPIRA F. , KAHN A. , DELPECH M. , DREYFUS J.‐C. 
Published: September 2007

SummaryHereditary fructose intolerance is due to a deficiency of liver aldolase (aldolase B). Little is known about its molecular mechanisms. We have tried to demonstrate the presence of the molecule and have explored the possibility of genetic heterogeneity.Investigations included:Liver samples from fifteen cases of hereditary fructose intolerance due to aldolase B deficiency were studied by various electrophoretic techniques. After electrophoresis on polyacrylamide gels, proteins were electrophoretically transferred on to nitrocellulose filters. They were treated with specific antialdolase B antibodies, and then with radioiodinated protein A, followed by autoradiography.(a) sodium dodecyl sulphate electrophoresis, in order to detect the presence of immunologically(b) attempts to discover charge anomalies of the native molecule and of its subunits, by theIsoelectric focusing of the native enzyme.Isoelectric focusing and non‐equilibrium pH gradient electrophoresis (NEPHGE) afterThe major results were the following:(1) In all cases a cross‐reacting material was found, with a molecular subunit size of 38000,indistinguishablc from that of controls.(2) Evidence for molecular heterogeneity of the disease was provided by two types of data: amount of apparent immunologically reactive protein, which varied from less than 3 % to 100 % of that of controls; and charge data, aldolase B from seven patients showing an increased negative charge and from one patient a normal charge.
Genetic linkage data for the Dombrock blood group locus relative to chromosome 1 and chromosome 4 loci
Authors: LEWIS M. , KAITA H. , PHILIPPS S. , GIBLETT E. R. , ANDERSON J. E. 
Published: September 2007

SummaryOdds favouring Do: PGD linkage (ž+ 3.56 at θ= 0.23) based on the average antilod are 920:20≃46:1. If Do is located on chromosome 1 it lies distal to PGD and recombination between PGD and Do occurs more frequently in male than in female meioses. Our data do not support Do:GC linkage.
Absence of close linkage between Hereditary Spherocytosis (SPH) and 24 genetic marker systems including HLA and GM
Authors: JONGH B. M. de , BLACKLOCK H. A. , REEKERS P. , VOLKERS W. S. , KHAN P. MEERA , BERNINI L. F. , NIJENHUIS L. E. , van LOGHEM E. , SCHREUDER G. M. Th. , ROOD J. J. van 
Published: September 2007

SummaryA total of 250 individuals belonging to 19 different families, identified through established propositi were simultaneously screened for hereditary spherocytosis (SPH), using stringent criteria, and 27 well‐known polymorphic genetic marker systems.The segregation analysis indicated that the pattern of inheritance of SPH in these families, being autosomal and dominant, had a 100 % penetrance. A statistical analysis, using the LIPED computer program of Ott (1974), revealed the absence of close linkage between SPH and AB0, ACP1, ADA, AK1, C3, D1A2, ESD, FY, CC, GL01, GM, GPT1, HLA, HPA, JK, K, KM, MNS, P, PGD, PGM1, PGP, PI, and RH.Since an earlier study by other investigators had convincingly suggested a linkage between SPH and GM, we subjected the data to further analysis and found no significant heterogeneity in our recombination values of linkage between SPH and GM, or any of the other informative loci.
Relative importance of genetic and nongenetic etiologies in idiopathic mental retardation: estimates based on analysis of medical histories
Authors: COSTEFF H. , COHEN B. E. , WELLER L. 
Published: September 2007

SummaryA method of analyzing subgroups of mental retardates for proportions of cases caused by nongenetic brain damage is presented here and applied to 490 Israeli retardates.Among mild retardates in simplex and multiplex families with normal unrelated parents, most of the cases were caused by nongenetic brain damage and only a minority were caused by polygenic heredity. Among severe retardates in multiplex families with normal unrelated parents, nongenetic brain damage is probably a more important cause than is homozygosity. In all groups except two (mild retardates with normal consanguineous parents, and severe retardates with retarded parents) the contribution of nongenetic brain damage was surprisingly large.
Effect of population associations and reduced penetrance on observed and expected genotype frequencies in a simple genetic model: application to HLA and insulin dependent diabetes mellitus
Authors: FALK C. T. , MENDELL N. R. , RUBINSTEIN P. 
Published: September 2007

SummaryThe observed and Hardy‐Weinberg‐expected frequencies for (HLA) marker heterozygotes in a disease population are calculated where it is assumed that the disease is caused by either homozygosity or heterozygosity (with reduced pentrance) for a disease susceptibility allele at a disease locus, that allele being positively associated with both of the relevant alleles at the marker locus (the single susceptibility allele model of Svejgaard & Ryder, 1981). It is shown that the observed frequency is always less than or equal to the H‐W expectation, with the (observed/expected) ratio decreasing as the degree of dominance increases.
Triple chromosome synapsis in oocytes from a human foetus with trisomy 21
Authors: WALLACE B. M. N. , HULTÉN M. A. 
Published: September 2007

SummaryOocytes from a human foetus with trisomy 21 were spread using detergent and examined by light and electron microscopy. The three chromosomes 21 occurred as bivalent and univalent or trivalent configurations. In the trivalents the lateral elements of the synaptonemal complex were associated in threes, either completely along the length of the trivalent, or partially, forming a variety of forked structures. This triple association demonstrates that, contrary to the classical view of chromosome pairing, three homologous chromosomes can be held in register at the same site.
Chiasma‐derived genetic lengths and recombination fractions: a reciprocal translocation 46, XY, t(1; 22) (q32; q13)
Authors: PALMER R. W. , HULTÉN M. A. 
Published: September 2007

SummaryThe chiasma distribution in a human male carrier of a balanced reciprocal translocation 46, XY, t(1; 22) (q32; q13) has been compared with data from six controls. The translocation carrier shows a raised chiasma frequency and altered chiasma distribution in chromosome 1, particularly in the region adjacent to the breakpoint. These changes are expected to distort the recombination pattern, implying that caution should be taken when trying to incorporate linkage data from translocation families into the normal genetic map.
The human glutathione S‐transferases: studies on the tissue distribution and genetic variation of the GST1, GST2 and GST3 isozymes
Authors: Strange R. C. , Faulder C. G. , Davis B. A. , Hume R. , Brown J. A. H. , Cotton W. , Hopkinson D. A. 
Published: September 2007

Summary1. Three sets of isozymes of glutathione‐S‐transferase (GST) have been identified in human tissues. They differ in their tissue distribution, incidence of genetic variation, susceptibility to inactivation by N‐ethylmaleimide and in their electrophoretic mobilities.2. The GST1 isozymes exhibit four phenotypes, including a common ‘null’ phenotype attributable to different combinations of three autosomal alleles GST1*1, GST1 *2 and GST1*0 of frequency 0·13, 0·23 and 0·64, respectively, in the European population.The genetic polymorphism of GST1 is easily demonstrable in adult liver, kidney, adrenal and stomach but the isozymes are only weakly expressed in skeletal and cardiac muscle and not at all in fetal liver, fibroblasts, erythrocytes, lymphocytes and platelets.3. The GST2 isozymes also exhibit variant patterns but these are probably due to post‐synthetic modification rather than allelic variation. The GST2 isozymes are not detectable in erythrocytes, platelets, cultured fibroblasts or lymphocytoid cells but are found in many other tissues, including fetal liver.4. GST3 isozymes were found as relatively strong components in every tissue examined except adult liver, with slight tissue to tissue variability in electrophoretic mobility.
The marker (X) syndrome: a cytogenetic and genetic analysis
Authors: Sherman S. L. , Morton N. E. , Jacobs P. A. , Turner G. 
Published: September 2007

SummaryThe results of a cytogenetic and segregation analysis of 110 pedigrees of the mar (X) syndrome are reported. The cytogenetic study indicated an inverse relationship between IQ and the mar(X) frequency in females but not in males. A small but significant effect of age on mar(X) frequency was observed in both males and females, but in females it was restricted to those of normal intelligence, retarded females showing no significant effect.Classical segregation analysis was performed using the program segran, analyzing sexes separately. a 20% deficit of affected males was observed, the most plausible explanation for the majority of these cases being incomplete penetrance. since this was an unexpected result, the data were scrutinized for possible biases; however, correction of these had little effect on the estimate. the penetrance of mental impairment in carrier females was estimated to be 30% and of mental impairment and/or mar(x) expression to be 56%. thus 44% of carriers cannot be detected with our definition of affection. no evidence for sporadic cases among affected males was found. complex segregation analysis was performed using the sex‐linked version of pointer analysing sexes together. this was done in order to test the results from classical segregation analysis, to test for family resemblance and to estimate mutation rates. it was confirmed that there was a 20% deficit of affected males, that, penetrance of mental impairment in females was approximately 30% and that there was no evidence: for sporadic: males. thus all males with the gene appear t o have received it from their carrier mothers and all mutations must occur in sperm. the mutation rate in sperm was estimated to be as high as 7·2 × 10‐4, implying that over one‐half of random carrier females are fresh mutants.our results have important implications for genetic counseling as they imply that all mothers of isolated affected males are carriers, that normal brothers of affected males have a 17% chance of carrying the gene and transmitting it to all their daughters, and that normal sisters of affected males have, at most, a 30% chance of being carriers. since there are biases in the data due to the testing of particular individuals, these probabilities must be considered approximations until they are independently confirmed.
Assignment of the human gene for peptidase E to the chromosomal region 17q23 → 17qter
Authors: Wilson D. , Harrison B. , Caron P. 
Published: September 2007

SummaryPeptidase E has been studied in 16 independent human‐Syrian hamster hybrids and 16 subclones. Evidence is presented indicating that the human gene for Peptidase E is on chromosome 17 in the region 17q23 → 17qter.
Confirmation of the regional localization of the genes for human acid alpha‐glucosidase (GAA) and adenosine deaminase (ADA) by somatic cell hybridization
Authors: Honig J. , Martiniuk F. , D'Eustachio P. , Zamfirescu C. , Desnick R. , Hirschhorn K. , Hirschhorn L. R. , Hirschhorn R. 
Published: September 2007

SummaryWe have confirmed the localization of human acid alpha‐glucosidase (GAA) to 17q21 → q25 and of adenosine deaminase (ADA) to 20q13 → 20qter by examination of hybrid clones derived from a fusion between a human cell line carrying a 17/20 balanced translocation (17pter → 17q25:: 20q13 → 20qter; 20pter → 20q13:: 17g25 → 17gter) and a mouse line deficient in thymidine kinase. These hybrids were constantly maintained in HAT selective media in order to select for the presence of the human thymidine kinase gene on the intact chromosome 17 (17q21 → 22) or the 17/20 (17pter → 17q25:: 20q13 → 20qter) translocation chromosome. We detected human GAA by rocket immunoelectrophoresis, using a heterologous antibody raised against human acid alpha‐glucosidase. A clone which contained the 17/20 translocation and no intact chromosome 17 was still positive for GAA. This finding confirms the exclusion of GAA from 17q25 ‐0 17qter reported by Nickel et al. (1982). Combined with earlier results (Weil et al. 1979), GAA can be assigned to 17q21 → 17q25. A clone which contained only the 17/20 translocation chromosome and no intact chromosome 20 contained ADA. This confirms the previous localization of ADA to 20q13.2 → qter by gene dosage studies (Philip et al. 1980).
Calculation of recurrence risk in the case of ankylosing spondylitis taking into consideration the antigen HLA‐B‐27
Authors: Gömör B. , Ratkó I. 
Published: September 2007

SummaryThe authors have provided a new recurrence risk table of ankylosing spondylitis. The mathematical problem solved was to combine a continuous distribution for polygenic inheritance with a discrete one, HLA‐B‐27 antigen ‘yes’ or ‘no’. Previously the highest probability of recurrence was 0.0785 in the case of an affected mother's son and it increased to 0.1416 when the B‐27 antigen positive affected mother had a B‐27 positive son.