Nishi Y, Ogawa M, Kamijo T, Igarashi Y, Iwatani N, Kohno H, Masumura T, Byun Y, Koga J
Department of Pediatrics, Hiroshima Red Cross Hospital, Japan.
J Pediatr Endocrinol Metab. 1997 Jan-Feb;10(1):73-6. doi: 10.1515/jpem.1997.10.1.73.
We report a Japanese boy with IGHD who is a compound heterozygote at the GH-1 gene locus. The patient and his mother were heterozygous for a 6.7 kb deletion of the GH-1 gene. A T-->C transition at position -123, an A-->G transition at position -6 and an A-->T transition at position -1 in the GH-1 promoter region and the addition of AGAA at base 250 in intron I were observed in one allele of the patient and his father. These results demonstrate that familial IGHD is a heterogeneous disease that perturbs different steps in the expression of the GH-1 gene.
我们报告了一名患有特发性生长激素缺乏症（IGHD）的日本男孩，他在生长激素-1（GH-1）基因位点是复合杂合子。该患者及其母亲在GH-1基因上存在6.7 kb的杂合缺失。在患者及其父亲的一个等位基因中，观察到GH-1启动子区域第-123位的T→C转换、第-6位的A→G转换和第-1位的A→T转换，以及内含子I中第250位碱基处AGAA的添加。这些结果表明，家族性IGHD是一种异质性疾病，它干扰了GH-1基因表达的不同步骤。
