Sercan O H, Korkmaz K S, Yazicioğlu M V, Sakizli M, Büyükgebiz A
Dokuz Eylül University, Medical Faculty, Medical Biology Department, Izmir, Turkey.
J Pediatr Endocrinol Metab. 1996 May-Jun;9(3):423-7. doi: 10.1515/jpem.1996.9.3.423.
Familial growth hormone deficiency type 1A is an autosomal recessive disease, caused by various homogenous deletions of both alleles of growth hormone gene 1 (hGH1). The hGH1 gene deletion is an event occurring between the 5' and the 3' flanking regions by unequal recombination, which causes a deletion in the hGH1 gene, mostly of 6.7 kb and rarely 7.6 or 7.0 kb in size. Two brothers diagnosed with GH deficiency syndrome were sent to our hospital for further evaluation. DNA samples of the probands and controls were amplified by PCR; restriction endonuclease analysis was done with Sma I enzyme and the patterns were evaluated. Gel electrophoresis results showed that the two brothers had a 7.0 kb deletion. These are the third and fourth cases reported with a 7.0 kb deletion. Both patients responded well to replacement therapy and did not develop antibodies against rGH. No other relatives presented with macro deletions in the hGH1 gene.
1A型家族性生长激素缺乏症是一种常染色体隐性疾病，由生长激素基因1（hGH1）的两个等位基因的各种同源缺失引起。hGH1基因缺失是由于5'和3'侧翼区域之间通过不等位重组发生的事件，这导致hGH1基因缺失，大小大多为6.7 kb，很少为7.6或7.0 kb。两名被诊断为生长激素缺乏综合征的兄弟被送往我院进行进一步评估。先证者和对照的DNA样本通过聚合酶链反应（PCR）扩增；用Sma I酶进行限制性内切酶分析并评估图谱。凝胶电泳结果显示，这两名兄弟有一个7.0 kb的缺失。这是报告的第三例和第四例有7.0 kb缺失的病例。两名患者对替代疗法反应良好，且未产生抗重组生长激素的抗体。没有其他亲属出现hGH1基因的大片段缺失。
