A novel gene for neonatal diabetes maps to chromosome 10p12.1-p13.
Diabetes
; 52(10): 2636-8, 2003 Oct.
Article
en En
| MEDLINE
| ID: mdl-14514650
ABSTRACT
We report a genomewide linkage analysis of a large consanguineous family segregating autosomal recessively inherited neonatal diabetes and the identification of a novel neonatal diabetes locus. Neonatal diabetes was characterized by low levels of circulating C-peptide with very low to undetectable levels of insulin in the presence of severe hyperglycemia unresponsive to insulin infusion. A dense genomewide linkage search of the family was undertaken using a first generation 10K single nucleotide polymorphism chip containing 10,044 markers. A region of homozygosity harboring the neonatal diabetes disease gene on chromosome 10p12.1-p13 was identified (multipoint logarithm of odds score 3.25). There is a strong history of type 2 diabetes in carriers of the disease gene. It is likely that chromosome 10p12.1-p13 may harbor a maturity-onset diabetes of the young or type 2 diabetes gene.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 10
/
Mapeo Cromosómico
/
Diabetes Mellitus
Tipo de estudio:
Prognostic_studies
Límite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Diabetes
Año:
2003
Tipo del documento:
Article
País de afiliación:
Reino Unido