Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy
作者： P. Thomas , G. Cote , N Wohllk , B Haddad , P. Mathew
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摘要: Familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion, is linked to chromosome 11p14-15.1. The newly cloned high-affinity sulfonylurea receptor (SUR) gene, a regulator was mapped 11p15.1 means fluorescence in situ hybridization. Two separate SUR gene splice site mutations, which segregated with disease phenotype, were identified affected individuals from nine different families. Both mutations resulted aberrant processing the RNA sequence and disruption putative second nucleotide binding domain protein. Abnormal secretion PHHI appears be caused gene.
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