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PMID: 100151 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

Linkage and gene localization of hereditary spherocytosis (HS).

Blood ·Vol. 52 ·No. 5 ·1978-11-00 ·Pages 859-67

Kimberling WJ, Taylor RA, Chapman RG, Lubs HA

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.

MeSH Terms
Female Genetic Linkage Humans Male Rh-Hr Blood-Group System Spherocytosis, Hereditary/genetics
Chemicals
Rh-Hr Blood-Group System
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Kimberling W J
Taylor R A
Chapman R G
Lubs H A
Article Info
Journal
Blood
Abbr.
Blood
ISSN
0006-4971
Published
1978-11-00
Pages
859-67
Language
English
Region
United States
NLM ID
7603509
Subset
IM
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