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PMID: 7034534 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Review

Genetics of Type I diabetes mellitus: a single, recessive predisposition gene mapping between HLA-B and GLO. With an appendix on the estimation of selection bias.

American journal of human genetics ·Vol. 33 ·No. 6 ·1981-11-00 ·Pages 865-82

Rubinstein P, Ginsberg-Fellner F, Falk C

Abstract

Three different published sets of HLA-typed families of juvenile diabetes mellitus (JDM) patients have been analyzed. There was no significant genetic heterogeneity between them according to the criterion of Morton, and the total material was analyzed on the assumption of a single recessive (JDM-P) gene with incomplete penetrance. The analysis, carried out with the NYLIP program modified to account for penetrance less than 1 and for selection bias, yields highly significant lod scores for linkage between HLA and JDM-P, with a maximum value of 7.40 at theta = .05 +/- .03. The segregation of HLA and GLO in five affected sib pairs, in which one of the sibs carries an HLA/GLO recombinant, places JDM-P closer to HLA than the GLO locus: four of these five pairs are HLA-identical and GLO-different, in agreement with the conclusions of the formal linkage analysis. The data from these three independent sets of families are therefore consistent with our earlier claim that JDM is inherited as a recessive trait closely linked to HLA with reduced penetrance, and its analysis does not require more complicated genetic models.

MeSH Terms
Chromosome Mapping Diabetes Mellitus, Type 1/genetics Female Gene Frequency Genes, Recessive Genetic Markers Genetic Predisposition to Disease Genotype HLA Antigens/genetics HLA-B Antigens Heterozygote Humans Lactoylglutathione Lyase/genetics Lod Score Lyases/genetics Male Models, Genetic Phenotype Selection, Genetic
Chemicals
Genetic Markers HLA Antigens HLA-B Antigens Lyases Lactoylglutathione Lyase
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Rubinstein P
Ginsberg-Fellner F
Falk C
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44 references, click to expand
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1981-11-00
Pages
865-82
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1685153
Subset
IM
Grants
NIADDK NIH HHS · AM-19631 · United States
NHLBI NIH HHS · HL-09011 · United States
External Links
PubMed source PMC Full Text View journal details
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