家族性高胰岛素血症定位于11号染色体p14 - 15.1区域，位于胰岛素基因着丝粒侧30厘摩处。
Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene.
作者信息
Glaser B, Chiu K C, Anker R, Nestorowicz A, Landau H, Ben-Bassat H, Shlomai Z, Kaiser N, Thornton P S, Stanley C A
机构信息
Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri 63110.
出版信息
Nat Genet. 1994 Jun;7(2):185-8. doi: 10.1038/ng0694-185.
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).
家族性高胰岛素血症（HI）是持续性新生儿高胰岛素血症性低血糖最常见的病因。对15个家族（12个阿什肯纳兹犹太家族、2个近亲结婚的阿拉伯家族、1个非犹太白种人家族）进行连锁分析，将HI定位于染色体11p14 - 15.1（优势对数记分=9.5，在D11S921处重组率θ=0）。重组体将疾病位点定位于D11S926和D11S928之间6.6厘摩的区间。在犹太家族中，与特定的D11S921/D11S419单倍型的关联（p = 0.003）提示存在奠基者效应。该位点对正常葡萄糖调节的胰岛素分泌很重要，是研究包括非胰岛素依赖型糖尿病（NIDDM）在内的其他β细胞功能障碍疾病的候选基因。
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