Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene.
Nat Genet
; 7(2): 185-8, 1994 Jun.
Article
em En
| MEDLINE
| ID: mdl-7920639
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).
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 11
/
Hiperinsulinismo
/
Insulina
Limite:
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
1994
Tipo de documento:
Article