Localization of MODY3 to a 5-cM region of human chromosome 12.

Menzel S, Yamagata K, Trabb JB, Nerup J, Permutt MA, Fajans SS, Menzel R, Iwasaki N, Omori Y, Cox NJ
Diabetes. 1995 44 (12): 1408-13

PMID: 7589847 · DOI:10.2337/diab.44.12.1408

Maturity-onset diabetes of the young (MODY) is a heterogeneous disorder that appears to be characterized by a primary defect in insulin secretion. Mutations in an unknown locus (MODY1) on chromosome 20 and the glucokinase gene (MODY2) on chromosome 7 can cause this form of non-insulin-dependent diabetes. Recent genetic studies have identified a third locus on chromosome 12 (MODY3) that is linked to MODY in a group of French families. We have identified three families from Denmark, Germany, and the U.S. (Michigan) showing evidence of linkage with MODY3 and a family from Japan showing suggestive evidence. Analysis of key recombinants in these families localized MODY3 to a 5-cM interval between the markers D12S86 and D12S807/D12S820.

MeSH Terms (13)

Adult Chromosome Mapping Chromosomes, Human, Pair 12 Denmark Diabetes Mellitus, Type 2 Genetic Linkage Germany Humans Japan Mutation Pedigree Phenotype United States

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