Literature DB >> 100151

Linkage and gene localization of hereditary spherocytosis (HS).

W J Kimberling, R A Taylor, R G Chapman, H A Lubs.   

Abstract

Fifteen kindreds with dominant hereditary spherocytosis (HS) were studied. Expansion of the data from a family with an 8/12 translocation provided further evidence that at least one locus for HS is located near the breakpoint of the translocation. Linkage analysis of all families showed a lack of linkage with all marker loci studied except for Gm (IgG). Linkage between Gm and HS was shown to be significant with a maximum lod score of 3.42 at a recombination fraction of 22%. No heterogeneity of the recombination fraction was observed either between sexes or between families. These results are compatible with the hypothesis that HS is not a heterogeneous disorder.

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Year:  1978        PMID: 100151

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   22.113


  5 in total

1.  Localization of the spherocytosis gene to chromosome segment 8p11.22----8p21.

Authors:  M Kitatani; H Chiyo; M Ozaki; S Shike; S Miwa
Journal:  Hum Genet       Date:  1988-01       Impact factor: 4.132

Review 2.  Human chromosome 8.

Authors:  S Wood
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

3.  The alpha-spectrin gene is on chromosome 1 in mouse and man.

Authors:  K Huebner; A P Palumbo; M Isobe; C A Kozak; S Monaco; G Rovera; C M Croce; P J Curtis
Journal:  Proc Natl Acad Sci U S A       Date:  1985-06       Impact factor: 11.205

4.  Spectrin alpha IIa variant in dominant and non-dominant spherocytosis.

Authors:  P Boivin; C Galand; I Devaux; M C Lecomte; M Garbarz; D Dhermy
Journal:  Hum Genet       Date:  1993-09       Impact factor: 4.132

5.  Mendelian Inheritance in Man and its online version, OMIM.

Authors:  Victor A McKusick
Journal:  Am J Hum Genet       Date:  2007-03-08       Impact factor: 11.025

  5 in total

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