Familial hyperinsulinism maps to chromosome 11p14–15.1, 30 cM centromeric to the insulin gene
- 1 June 1994
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 7 (2) , 185-188
Abstract
Familial hyperinsulinism (HI) is the most common cause of persistent neonatal hyperinsulinaemic hypoglycemia. Linkage analysis in 15 families (12 Ashkenazi Jewish, 2 consanguineous Arab, 1 non–Jewish Caucasian) mapped HI to chromosome 11p14–15.1 (lod score = 9.5, θ=0 at D11S921). Recombinants localized the disease locus to the 6.6 cM interval between D11S926 and D11S928. In Jewish families, association (p=0.003) with specific D11S921/D11S419 haplotypes suggested a founder effect. This locus, which is important for normal glucose–regulated insulin secretion, represents a candidate gene for studies of other diseases of β–cell dysfunction including non–insulin–dependent diabetes mellitus (NIDDM).Keywords
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