Pan X
Zhonghua Yi Xue Za Zhi. 1991 Jun;71(6):318-20, 24.
Genomic DNA from 40 unrelated healthy individuals and 16 families affected with 21-hydroxylase deficiency were digested with restriction enzyme Taq I followed by Southern blot and hybridization using a 21-hydroxylase (21-OH) gene cDNA probe. In healthy individuals the number of copies of 21-OHB gene was constant while that of 21-OHA gene was variable including deletion and duplication. In addition, we found an extra 5.6 kb band in one normal person and in one CAH family. Among the 16 affected families, 19% of 21-OHB gene were deleted. No homologous deletion was found. The frequency of deletion is lower than that reported in the literature. There was variation in the copy-number of 21-OHA gene among patients with CAH, yet no difference was found between the patients and normal persons. The information on prenatal diagnosis of CAH is briefly discussed.
用限制性内切酶Taq I消化40名无亲缘关系的健康个体以及16个患有21 - 羟化酶缺乏症家庭的基因组DNA，随后进行Southern印迹杂交，并使用21 - 羟化酶（21 - OH）基因cDNA探针。在健康个体中，21 - OHB基因的拷贝数是恒定的，而21 - OHA基因的拷贝数是可变的，包括缺失和重复。此外，我们在一名正常人以及一个先天性肾上腺皮质增生症（CAH）家庭中发现了一条额外的5.6 kb条带。在16个患病家庭中，19%的21 - OHB基因发生了缺失。未发现同源缺失。缺失频率低于文献报道。CAH患者中21 - OHA基因的拷贝数存在变异，但患者与正常人之间未发现差异。文中简要讨论了CAH的产前诊断信息。
