1 - 10 of 11 articles
Summary Genetic variation has been studied in erythrocyte lysates from 100 Japanese children and their parents by means of two‐dimensional polyacrylamide gel electrophoresis. Fifty‐five polypeptides selected without respect to variability were considered suitable for scoring. Genetic variation...
Summary The principles of linkage detection and measurement are traced from the first discovery of linkage to its present‐day use in human genetics. Some indications are given of their success and of the present problems and challenges facing them.
Summary Dermatoglyphic analysis which included topological pattern elements, pattern intensities and dermatoglyphic measurements was performed in 90 male and 110 female fragile X subjects. Data on cytogenetic and intellectual assessments were also available in these individuals. The following...
Summary We have investigated 31 families segregating for Hunter Syndrome in order to advance our understanding of the genetics of this disease. The hair root test for the diagnosis of carriers of Hunter Syndrome was improved by the adoption of a new diagnostic index that distinguishes between...
Summary EM investigations of surface spread synaptonemal complexes of pachytene spermatocytes were performed on a human male carrier of a pericentric inv(13), ascertained through his daughter with a duplication‐deficiency of the same chromosome. The inv(13) bivalent could be unambiguously...
Summary Family and sibship analyses prove that the 12E7 quantitative polymorphism of red cells is controlled by a Y‐borne locus, Yg, in addition to the X‐borne locus, Xg. X‐Y recombination is invoked to explain the apparent exception to Y‐borne control of the 12E7 polymorphism in one family.
Summary The concept of a proband, and a formula frequently used to give the probability that a family with r affected children has t probands, have led to frequently used, but incorrect, ‘limits of ascertainment’ in estimation problems involving ascertainment sampling. Data suggesting a sampling...
Summary The genomic DNA‐probe L2.30 was used to assign D2S1 to 2p23–pter by in situ hybridization. The RFLP revealed by BglII was then used for linkage studies in the Oslo‐NHIK families segregating for the acid phosphatase ACPl protein polymorphism. Evidence for very close linkage was found by a...
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