Familial hyperinsulinism maps to chromosome 11p14–15.1, 30 cM centromeric to the insulin gene View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1994-06

AUTHORS

B. Glaser, K.C. Chiu, R. Anker, A. Nestorowicz, H. Landau, H. Ben-Bassat, Z. Shlomai, N. Kaiser, P.S. Thornton, C.A. Stanley, R.S. Spielman, K. Gogolin-Ewens, E. Cerasi, L. Baker, J. Rice, H. Donis-Keller, M.A. Permutt

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, theta = 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 beta-cell dysfunction including non-insulin-dependent diabetes mellitus (NIDDM). More... »

PAGES

185

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng0694-185

DOI

http://dx.doi.org/10.1038/ng0694-185

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1007316659

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/7920639


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