基础医学与临床2012，Vol.32Issue(6)：660-663,4.
一种新复合杂合突变导致21-羟化酶缺陷症
A novel compound heterozygous mutations causing 21-hydroxylase deficiency
摘要
Abstract
Objective To investigate the clinical and molecular genetic characteristics of a Chinese patient with 21-hydrosylase deficiency (21-OHD). Methods Clinical features and laboratory data were collected from that patient. Ten exons and the boundaries of exon-intron of CYP21A2 gene were amplified by PCR and sequenced. The correlation between clinical characteristics and genotype was analyzed. Results The female patient was diagnosed as 21-OHD with simple-virilizing form according to the clinical manifestation. DNA sequencing results showed a heterozygous mutation. One allele of the patient contained a base transversion (T > A) at c. 515 and led to a mis-sense mutation of Ile to Asn at the 172th amino acid. The an other allele had one base transversion (T > C) at c. 593 and led to a nonsense mutation at the 198th codon, which is a new mutation. The novel compound heterozygous mutations cause the simple-virilizing form of congenital adrenal hyperplasia. Conclusions Through CYP21A2 gene analysis, a new mutation causing 21-OHD was found, which broadened the mutation database and the clinical diagnosis of 21-OHD was confirmed.关键词
21-羟化酶缺陷症/CYP21A2基因/基因突变Key words
21-hydrosylase deficiency/ CYP21A2 gene/ gene mutions分类
医药卫生引用本文复制引用
陈晨,聂敏,卢琳,陆召麟,孙梅励,杨秀萍..一种新复合杂合突变导致21-羟化酶缺陷症[J].基础医学与临床,2012,32(6):660-663,4.基金项目
国家自然科学基金(81070630) （81070630）
