MUTATIONS IN THE SULFONYLUREA RECEPTOR GENE IN FAMILIAL PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
MUTATIONS IN THE SULFONYLUREA RECEPTOR GENE IN FAMILIAL PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
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DOI：
10.1126/science.7716548
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发表时间：
1995-04-21
期刊：
影响因子：
56.9
通讯作者：
BRYAN, J
中科院分区：
文献类型：
--
作者：
THOMAS, PM;COTE, GJ;BRYAN, J
家族性持续性婴儿期高胰岛素性低血糖 (PHHI) 是一种以胰岛素分泌不受调节为特征的常染色体隐性遗传疾病，与染色体 11p14-15.1 有关。新克隆的高亲和力磺酰脲受体（SUR）基因是胰岛素分泌的调节因子，通过荧光原位杂交被定位到11p15.1。在来自九个不同家族的受影响个体中发现了两个独立的SUR基因剪接位点突变，这些突变与疾病表型分离。这两个突变导致RNA序列的异常加工和SUR蛋白的假定第二核苷酸结合域的破坏。 PHHI 中胰岛素分泌异常似乎是由 SUR 基因突变引起的。
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 of insulin secretion, was mapped to 11p15.1 by means of fluorescence in situ hybridization, Two separate SUR gene splice site mutations, which segregated with disease phenotype, were identified in affected individuals from nine different families, Both mutations resulted in aberrant processing of the RNA sequence and disruption of the putative second nucleotide binding domain of the SUR protein. Abnormal insulin secretion in PHHI appears to be caused by mutations in the SUR gene.