摘要:

SummaryA method for the electrophoretic transfer of C6 molecules to a nitrocellulose filter is described. The protein is detected by the use of anti‐C6 antibodies and a peroxidase conjugated antibody. Using this method typical isoelectric patterns of C6 variant phenotypes are found. Inheritance and population data are presented. Three rare structural variants, one of which appears to be previously unreported, were discovered among a sample of 202 individuals. The method is discussed from the viewpoint of its flexibility and its value as an additional tool for revealing inherited variations in structural gene product

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1983.tb00964.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

SummaryTwo distinct isozymes (UMPH‐1 and UMPH‐2) which hydrolyse pyrimidine 5′‐nucleotides have been identified in mouse, rat and Chinese hamster tissues. One of these, UMPH‐1 appears to be specific for pyrimidine 5′‐nucleotides, whereas the other, UMPH‐2 has a broader substrate specificity. UMPH‐1 and UMPH‐2 show differences in their expression in different tissues. The evidence suggests that UMPH‐1 and UMPH‐2 are coded by distinct structural gene loci,UMPH‐1andUMPH‐2.These isozymes have not been identified in man, and it is suggested that they may have overlappi

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1983.tb00965.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

SummaryElectrophoretic and quantitative analysis of pyrimidine 5′‐nucleotidase in human erythrocytes from healthy individuals and a patient deficient in pyrimidine 5′‐nucleotidase, using a range of substrates, has shown that the patient has a marked deficiency with UMP, CMP and dCMP as substrates but near normal levels of activity with dUMP and dTMP as substrates. The observations suggest that two separate structural gene loci coding for distinct 5′‐nucleotidases with similar electrophoretic mobility exist in man. The genetic determination of these enzymes seems therefore to be homologous with that found

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1983.tb00966.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1983.tb00967.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

SummaryAn analysis of sex ratio was made for chromosomally normal and trisomic spontaneous abortions identified in a cytogenetic survey of spontaneous abortions. For the chromosomally normal group, the extent of maternal contamination among 46, XX abortions was determined by comparing chromosome heteromorphisms of the parents with those from the tissue samples. The sex ratio among the normal abortions was then estimated to be approximately 1.30, after correcting for the maternal contaminants and46, XX hydatidiform moles of androgenetic origin. This estimate is significantly higher than values typically reported for newborns, indicating an effect of X‐linked genes actingin utero.The sex ratio among trisomic abortions identified in the present study and in four other cytogenetic studies of spontaneous abortions was also significantly greater than 1.0, but not as high as the estimates of sex ratio for the chromosomally normal abortions. There was considerable variability among individual trisomies, and possible mechanisms leading to this variation are discusse

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1983.tb00968.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

SummaryOdds favouringDo: PGDlinkage (ž+ 3.56 at θ= 0.23) based on the average antilod are 920:20≃46:1. IfDois located on chromosome 1 it lies distal toPGDand recombination betweenPGDandDooccurs more frequently in male than in female meioses. Our data do not supportDo:GClink

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1983.tb00969.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

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 betweenSPHandAB0, ACP1, ADA, AK1, C3, D1A2, ESD, FY, CC, GL01, GM, GPT1, HLA, HPA, JK, K, KM, MNS, P, PGD, PGM1, PGP, PI, andRH.Since an earlier study by other investigators had convincingly suggested a linkage betweenSPHandGM, we subjected the data to further analysis and found no significant heterogeneity in our recombination values of linkage betweenSPHandGM, or any of the other informative loc

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1983.tb00970.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

SummaryDifferential still birth rates as a function of birth weight have been studied in all single births in the United States of America (White and Non‐white groups) in the years 1950, 1958, 1967 and 1976. During the 26‐year interval a reduction of both the stabilizing effect and the intensity of selection have been observed. For the 1960 cohort it has been found that selection associated with birth weight is mainly operating in the perinatal period and only minor effects are still present at one year of

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1983.tb00971.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

SummaryA new analysis of family data concerning the repetitions of HLA haplotypes among affected siblings is presented to provide a method to determine the mechanism of inheritance of some diseases. The analysis differs from earlier ones in two major respects: sibships containing more than two affected sibs are included in the analysis, and due account is taken of the number of unaffected sibs in each sibship.Data relating to juvenile diabetes are analysed, and a recessive mode of inheritance of this disease is confirmed.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1983.tb00972.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

SummaryA method of analyzing subgroups of mental retardates for proportions of cases caused bynongeneticbrain 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.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1983.tb00973.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY