Linkage and gene localization of hereditary spherocytosis (HS). 1978

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

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.

UI MeSH Term Description Entries
D008040 Genetic Linkage The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic
D008297 Male Males
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012204 Rh-Hr Blood-Group System Erythrocyte isoantigens of the Rh (Rhesus) blood group system, the most complex of all human blood groups. The major antigen Rh or D is the most common cause of erythroblastosis fetalis. Rh Factors,Rhesus Blood-Group System,Antigen D, Rh Blood Group,Blood-Group System, Rh-Hr,Blood-Group System, Rhesus,Blood-Group Systems, Rh-Hr,Blood-Group Systems, Rhesus,Factor, Rh,Factors, Rh,Rh Factor,Rh Hr Blood Group System,Rh-Hr Blood-Group Systems,Rhesus Blood Group System,Rhesus Blood-Group Systems,System, Rh-Hr Blood-Group,System, Rhesus Blood-Group,Systems, Rh-Hr Blood-Group,Systems, Rhesus Blood-Group
D013103 Spherocytosis, Hereditary A group of familial congenital hemolytic anemias characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions. Hereditary Spherocytoses,Spherocytoses, Hereditary

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