21-羥缺乏所致之先天性腎上腺增生的分子病變

Abstract

典型21-羥缺乏所致之先天性腎上 腺增生為孩童常見的內分泌疾病。本研究 共分析來自57 家庭的62 病人，結果顯示 常見的突變依序為I172N(22.8%)，介入子2 突變(21.1%)，脫失或大基因轉換(14%)及 R356W(8.8%)。於一單純雄性化型患者， 除了發現I172N 突變外，於外介子9 尚發 現一新的突變。我們的結果亦證實基因型 與表型間有很好的相關性。所有具無效的 偶對基因者均為失鹽型患者，具有內介子2 患者中僅有一名為單純雄性化型，而所有 具I172N 患者均為單純雄性化型。

Classic congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency is a common endocrine disorder in children. In the present study, we genotyped 62 patients from 57 unrelated families. Our results showed that the most common mutation was I172N (22.8%), followed by intron 2 splicing mutation (21.1%), deletion or large gene conversion (LGC)(14%) and R356W(8.8%). One novel mutation in exon 9 was detected in a simple virilizer who also carried the I172N mutation. There was good correlation between genotype and phenotype. All patients with both null alleles are salt losers. Patients with intron 2 as the determining alleles are all salt losers except one simple virilizer. All patients carrying I172N are simple virilizer. 二、Introduction Classic CAH due to 21-hydroxylase deficiency is a common disorder in children. Forty-nine mutations of the steroid 21- hydroxylase gene has been reported [1-3]. Although some discrepancies have been reported, the genotype generally correlates with the phenotype [4,5]. The mutation study of CAH patients in Taiwan has been reported [6-8]. However, the phenotypegenotype correlation has not been reported before. In the present study, we analyzed the molecular pathology of 62 classic CAH patients with allele-specific PCR and PCRsingle strand conformation polymorphism (SSCP) in order to provide information for the rapid diagnosis in the suspected neonates and prenatal diagnosis in high-risk families.