Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene
| Autor: | B Glaser, John P. Rice, R Anker, Z. Shlomai, Richard S. Spielman, Erol Cerasi, Lester Baker, Helen Donis-Keller, H. Ben-Bassat, M. A. Permutt, A Nestorowicz, Heddy Landau, Paul S. Thornton, Charles A. Stanley, N Kaiser, K. J. Gogolin-Ewens, Ken C. Chiu |
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| Rok vydání: | 1994 |
| Předmět: |
Genetic Markers
Male congenital hereditary and neonatal diseases and abnormalities Candidate gene medicine.medical_specialty Genetic Linkage Locus (genetics) Biology Hypoglycemia Gene mapping Genetic linkage Internal medicine Hyperinsulinism Insulin Secretion Genetics medicine Humans Insulin Chromosomes Human Pair 11 Haplotype Infant Newborn Chromosome Mapping medicine.disease Founder Effect Pedigree Endocrinology Haplotypes Jews Female Founder effect |
| Zdroj: | Nature genetics. 7(2) |
| ISSN: | 1061-4036 |
| Popis: | 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). |
| Databáze: | OpenAIRE |
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