Lucarelli P, Mantuano E, Giorgi P L, Bartolotta E, Cardinale G, Cappa M, Palmarino R
Centro di Genetica Evoluzionistica del CNR, Dipartimento di Genetica e Biologica Molecolare, Università La Sapienza, Roma, Italia.
Hum Hered. 1992;42(2):134-9. doi: 10.1159/000154118.
The somatostatin (SST) gene was analyzed to detect possible molecular variations in subjects with familial isolated growth hormone deficiency type I (IGHD I). No gross alterations in restriction fragments were observed with 18 used enzymes. The association with two RFLPs closely linked to the SST gene was also negative, adding weight to the evidence that the SST gene is not involved in the etiology of IGHD I. The nucleotide variability of a 23-kb DNA segment containing the SST gene and its flanking sequences was studied by restriction analysis of a sample of 19 Italians. The data suggest that approximately 1 in 400 bp is variant in this region.
对生长抑素（SST）基因进行分析，以检测家族性Ⅰ型孤立性生长激素缺乏症（IGHD I）患者中可能存在的分子变异。使用18种酶未观察到限制性片段有明显改变。与两个与SST基因紧密连锁的限制性片段长度多态性（RFLP）的关联也为阴性，这进一步证明SST基因不参与IGHD I的病因。通过对19名意大利人的样本进行限制性分析，研究了包含SST基因及其侧翼序列的23kb DNA片段的核苷酸变异性。数据表明，该区域约每400bp中有1个是变异的。
