先天性肾上腺皮质增生症21-羟化酶缺陷的产前诊断一例

Prenatal diagnosis of congenital adrenal hyperplasia with 21-hydroxylase deficiency

目的 探讨先天性肾上腺皮质增生症 2 1 羟化酶缺陷的产前诊断方法。方法 运用Southern杂交、单链构象多态性分析和人工酶切位点分析的方法检测突变 ,对先天性肾上腺皮质增生症 2 1 羟化酶缺陷先证者 (男 ,3岁 )及其父母进行DNA诊断 ,并于其母亲第 5次妊娠 16周时抽取其羊水进行羊水细胞诊断。结果 先证者存在缺失突变与内含子 2第 6 5 6剪切突变 ,父母各携带其一。羊水细胞未检出两种突变 ,判断胎儿正常。胎儿娩出后发育良好 ,实验室检查正常 ,证实了产前诊断结果。结论 羊水细胞DNA分析是先天性肾上腺皮质增生症 2 1 羟化酶缺陷的产前诊断的可靠方法。

Objective To explore the method for prenatal diagnosis of congenital adrenal hyperplasia (CAH) with 21-hydroxylase deficiency (21-OHD). Methods DNA mutations of 21-hydroxylase were detected by Southern hybridization, single-strand conformation polymorphism (SSCP) and amplification created restriction site (ACRS) analysis in the proband with 21-OHD and his parents. During the fifth pregnancy, amniocentesis was carried out at the 16th wk of gestation, and prenatal gene diagnosis was performed. Results Both point mutations int 2, nt 656 and a deletion were confirmed in the proband. Each parent carried one of the two mutations. ACRS analysis on amniocytes showed that Neither of the two defects existed in fetus. This prenatal diagnosis was confirmed by the normal clinical manifestation and laboratory tests after the infant's birth. Conclusion DNA analysis of amniocytes was a feasible method for the prenatal diagnosis of congenital adrenal hyperplasia with 21-hydroxylase deficiency.