Thomas P M, Cote G J, Hallman D M, Mathew P M
Department of Medical Specialties, University of Texas M.D. Anderson Cancer Center, Houston 77030.
Am J Hum Genet. 1995 Feb;56(2):416-21.
Familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is a rare, autosomal recessive disease of unregulated insulin secretion, defined by elevations in serum insulin despite severe hypoglycemia. We used the homozygosity gene-mapping strategy to localize this disorder to the region of chromosome 11p between markers D11S1334 and D11S899 (maximum LOD score 5.02 [theta = 0] at marker D11S926) in five consanguineous families of Saudi Arabian origin. These results extend those of a recent report that also placed PHHI on chromosome 11p, between markers D11S926 and D11S928. Comparison of the boundaries of these two overlapping regions allows the PHHI locus to be assigned to the 4-cM region between the markers D11S926 and D11S899. Identification of this gene may allow a better understanding of other disorders of glucose homeostasis, by providing insight into the regulation of insulin release.
家族性婴儿持续性高胰岛素血症性低血糖症（PHHI）是一种罕见的常染色体隐性疾病，其胰岛素分泌不受调节，表现为尽管存在严重低血糖，但血清胰岛素水平仍升高。我们采用纯合子基因定位策略，在5个沙特阿拉伯血统的近亲家庭中，将该疾病定位到11号染色体p区，位于标记D11S1334和D11S899之间（在标记D11S926处最大LOD值为5.02 [θ = 0]）。这些结果扩展了最近一份报告的结果，该报告也将PHHI定位在11号染色体p区，位于标记D11S926和D11S928之间。比较这两个重叠区域的边界，可将PHHI基因座定位到标记D11S926和D11S899之间的4厘摩区域。该基因的鉴定可能有助于更好地理解其他葡萄糖稳态紊乱，因为它能为胰岛素释放的调节提供深入了解。
