Linkage and gene localization of hereditary spherocytosis (HS)

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

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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 on 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.

Original languageEnglish (US)
Pages (from-to)859-867
Number of pages9
JournalBlood
Volume52
Issue number5
Publication statusPublished - Dec 1 1978

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ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

Cite this

Kimberling, W. J., Taylor, R. A., Chapman, R. G., & Lubs, H. A. (1978). Linkage and gene localization of hereditary spherocytosis (HS). Blood, 52(5), 859-867.