摘要:

SummaryClinical, radiological and genetic observations are described in a kindred with multiple epiphysial dysplasia, a hereditary disturbance in growth and development of multiple epiphyses. Blood grouping studies failed to show linkage with the trait in this family.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1967.tb00021.x

出版商:Blackwell Publishing Ltd    

年代:1967

数据来源: WILEY

摘要:

SummaryThe loci for Xg and for glucose‐6‐phosphate dehydrogenase are not within direct measurable distance of each other. Analysis of two‐generation data for a previous series of Israeli families strongly suggested that linkage was measurable, but massive three‐generation data from Sardinia contradicted this and stimulated the collection of a second series in Israel, this time confined mostly to three‐generation families. The two Israeli series combined now agree with the Sardinian series in showing no evidence of direct measurabl

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1967.tb00022.x

出版商:Blackwell Publishing Ltd    

年代:1967

数据来源: WILEY

摘要:

Summary1. Six common and nine rare electrophoretically distinct phenotypes of human placental alkaline phosphatase are described.2. Their incidence has been determined in nearly 600 placentae derived from single births in an ‘ English’ population, and in placentae from more than 500 twin births. Smaller numbers from Negro and Indian populations have also been studied.3. Strong evidence supporting the hypothesis that these phenotypes are determined by three common and six rare alleles at an autosomal locus is provided by:(a) The characteristics of the electrophoretic patterns observed in the different phenotypes.(b) The agreement of the observed numbers of the various phenotypes in the different populations studied with the numbers expected, assuming a Hardy‐Weinberg equilibrium.(c) Detailed sib‐pair analysis of the phenotypes in the pairs of placentae obtained from more than 400 dizygotic twins. These data also show that the placental phenotype is determined by the genotype of the foetus.4. The results on the Negro population indicate that the gene frequencies are very different from those in the ‘English’ population.5. The effect of neuraminidase on the electrophoretic mobility of placental alkaline phosphatase suggests that there may be eight available sialic acid residues per enzyme molecule. This appears to be the same for all the common phenotypes.6. A model for the structure of placental alkaline phosphatase is suggested which will account for the triple‐banded pattern characteristic of heterozygotes and also for the relative intensities of the three bands seen in different

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1967.tb00023.x

出版商:Blackwell Publishing Ltd    

年代:1967

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1967.tb00024.x

出版商:Blackwell Publishing Ltd    

年代:1967

数据来源: WILEY

摘要:

SummaryOut of a total of 60 sex‐linked or probably sex‐linked genes in man, 34 have no known effects in the heterozygous condition, and in another 4 the known effects are of a humoral kind and hence cannot give any information concerning the Lyon hypothesis (l.h.). Of the remainder, 17 genes have known or suspected effects in heterozygous women which are multicellular in nature; though these could, in principle, give rise to the patchwork mosaic manifestation demanded by the l.h., there is not a single really plausible case amongst them and none which can be so interpreted without variousad hocassumptions. The claim that the heterozygous phenotype of several of these conditions supports the l.h. can thus be shown to be without foundation. In the remaining five conditions, effects on the cellular level have been identified. In one of them (Xg), there is no evidence for the existence of two red cell populations in heterozygous women. Evidence for the existence of two distinct cell populations comes mainly from G‐6‐PD deficiency and, in a less complete form, from agammaglobulinaemia and Hurler's syndrome. In the first of these, the ‘ mosaic’ is so fine grained as to be difficult to reconcile with the l.h., which postulates inactivation early in embryonic life. Moreover, there is evidence that this phenomenon is not confined to sex‐linked genes, but occurs similarly in autosomal conditions. It is concluded that the behaviour of sex‐linked genes in man (like that in other mammals) gives no support to the

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1967.tb00025.x

出版商:Blackwell Publishing Ltd    

年代:1967

数据来源: WILEY

摘要:

SummaryAn analysis of ABO blood‐type data on 3817 live births and their parents yielded the following main findings.1A deficiency of type‐A heterozygotes in the offspring. (This might be due to errors in typing.)2An excess of type‐B heterozygotes in compatible matings.3The incompatibility effect between type‐B offspring and type‐O mothers.I wish to express my deep gratitude to Profs. Y. Yerushalmy and C. Stern for their constant help and advice. Thanks are also due to Profs. S. Nissen‐Meyer, E. R. Dempster and D. Black‐well for their kind encouragement and to Miss L. Milkovitch, Miss s. C. Stevens and Mr W. Quinn for their assistance in obtaining the data and preparing th

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1967.tb00026.x

出版商:Blackwell Publishing Ltd    

年代:1967

数据来源: WILEY

摘要:

SummaryThe taste thresholds for alcoholic solutions of anetholtrithione (ATTH) in a student sample were found to be bimodally distributed. This substance does not contain the NC=S group which until now has been the only one to produce bimodality. Taste sensitivity to ATTH is highly correlated with PTC sensitivity and presumably is largely controlled by the same alleles.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1967.tb00027.x

出版商:Blackwell Publishing Ltd    

年代:1967

数据来源: WILEY

摘要:

SummaryThe Weinberg differential rule seems to be defective in the sense that the found monozygotic twins are less numerous than expected.This study has been supported by grants from the Sigrid Jushlius Foundation. I wish to express my thanks to doctor K. E. Bruun for access to the twin series of the Finnish Foundation for Alcohol Research.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1967.tb00028.x

出版商:Blackwell Publishing Ltd    

年代:1967

数据来源: WILEY

摘要:

Book reviewed in this article:Humangenetik. Ein kurzes Handbuch in fünf Bänden, vol. v, part 1. Edited by P. E. Becker.Klassische und molekulare Genetik. By C. Bresch.Chromosome Studies on Adults. By W. M. CourtBrown, PatriciaA. Jacobs, KarinE. Buckton, IshbelM. Tough, E. V. Kuenssbergand J. D. E. Knox.Nineteenth Annual Symposium on Fundamental Cancer Research, 1965.Developmental and Metabolic Control Mechanism and Neoplasia.Determinants of Infant Behaviour, III. Proceedings of the third Tavistock Study Group on mother‐infant interaction held at the house of the Ciba Foundation, London, September 1963. Edited by B. M. Foss with a foreword by JohnBowlby.Genetics. By RobertC.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1967.tb00029.x

出版商:Blackwell Publishing Ltd    

年代:1967

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1967.tb00030.x

出版商:Blackwell Publishing Ltd    

年代:1967

数据来源: WILEY