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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary To refine the genetic and physical mapping of the locus for Alport syndrome (ATS), 22 X-chromosome restriction fragment length polymorphism (RFLP) markers that fall between Xq21.3 and Xq25 were tested for genetic linkage with the disease and also mapped with respect to a series of physical breakpoints in this region. The location of the COL4A5 gene, which has recently been shown to be mutated in at least some families with Alport syndrome, was determined with respect to the same physical breakpoints. Two large Utah kindreds were included in the genetic studies, kindreds P and C, with 125 and 63 potentially informative meioses, respectively. Both kindreds have essentially identical nephritis; however, kindred P has sensorineural hearing loss associated with the nephritis, while kindred C does not. A mutation in COL4A5 has been demonstrated for kindred P, but no change in this gene has yet been detected for kindred C. Twelve informative probes did not recombine with the disease locus in either kindred (θ= 0.0, with combined lod scores for the two kindreds ranging from 7.7 to 30.0). The closest markers that could be demonstrated to flank the disease locus were the same for each kindred and thus the locations of the mutations causing the two disease phenotypes are not distinguishable at the current level of genetic resolution. The flanking markers are also useful for the resolution of questionable diagnoses and allow accurate estimates for these families of the rate of sporadic hematuria in noncarrier females (7%) and the penetrance of hematuria for carrier females (93%).
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] We have contructed a two–dimensional map of 243 markers on the X chromosome. The average distance between markers ordered by two recombinants is 5.4 centiMorgans(cM), which is reduced to 3.2 cM using a less stringent criterion of one recombinant. Map resolution is enhanced by replacing the ...
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Behavior genetics 7 (1977), S. 261-271 
    ISSN: 1573-3297
    Keywords: assortative marriage ; assortative mating ; multivariate analysis ; quantitative genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Psychology
    Notes: Abstract One hundred and twenty-three spouse pairs gathered as part of a family study of the genetics of special abilities were examined on a battery of ability tests. Four principal components were interpreted after rotation: Spatial, Verbal, Perceptual Speed, and Memory. In addition, the first factor from a common factor analysis (unrotated) was taken as an estimate of g. Assortative marriage was measured by the spouse correlations on the test and factor scores. Three multiple regression models were designed to determine whether phenotypic convergence during marriage occurs and whether resemblance between spouses in cognitive ability is related to fertility. The following independent variables were partialed out in the models: (1) sex and age; (2) sex, age, and length of marriage; and (3) sex, age, and number of children. Model 1 (age and sex) accounted for part of the correlation between spouses on the spatial tests, the verbal tests and the spatial and general factors. The perceptual speed and memory tests and factors were largely unaffected by partialing out the independent variables. No evidence of phenotypic convergence over years of marriage or of a relationship between fertility and resemblance in abilities was found.
    Type of Medium: Electronic Resource
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