21－羟化酶基因缺陷与先天性肾上腺皮质增生症临床类型相关性的研究

A STUDY ON CORRELATION BETWEEN21-HYDROXYLASE GENE DEFECTS ANDCLINICAL TYPES BY USING PCR-ASO TECH-NIQUE

对３０例先天性肾上腺皮质增生症患儿的２１－羟化酶基因，应用聚合酶链反应结合等位基因特异性寡核苷酸探针杂交技术，进行了分析。结果表明：有１８例患儿存在各种类型的基因缺陷，与临床类型之间有较明显的相关性。提示２１－羟化酶缺陷的临床不同类型的表现，与在分子水平的基因突变类型有密切关联。

AbstractWe analysed the gene encoding for 21-hydroxylase in 30 children with congenital adrenalhypertrophy (CAH) by using polymerase chain reac-tion(PCR)combined with allele-specific olygonu-cleotide probe(ASO)hybridization technique,The re-sults showed that 18 patients had various types of genedefects,which were obviously associated with the clin-ical forms of the disease.This study suggests that themanifestations of different clinical types of21-hydroxylase deficiency are closely associated withthe mutational patterns of the gene at molecular level.