17α羟化酶／17，20碳链裂解酶缺陷症一家系CYP17A1基因突变分析  

Genetic mutation analysis of a kindred with a patient suffering from 17 alpha-hydroxylase/17,20- lyase deficiency

作　　者：陈烨[1] 王伟[1] 王秀民[1] 董治亚[1] 肖园[1] 倪继红[1] 王德芬[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院儿内科,200025

出　　处：《中华儿科杂志》2009年第10期789-791,共3页Chinese Journal of Pediatrics

摘　　要：目的对一儿童17α羟化酶／17，20碳链裂解酶缺陷症（170HD）先证者及其主要家系成员进行CYP17A1基因突变分析，旨在提高认识和引起重视。方法分别获取先证者及其父母、双胎姐姐的基因组DNA，应用PCR和DNA直接测序方法，进行CYP17A1基因突变检测。结果先证者存在CYP17A1基因复合型点突变，即Ex1的nt186delC和Ex6的nt1085G〉A，使17a羟化酶完全失活，从而导致170HD。并在其父Ex1、其母和其双胎姐姐Ex6上均发现同类型基因突变。其中nt186delC为新发现突变位点，健康对照者未发现类似基因突变。结论异卵双胎先证者分别在CYP17A1基因的Ex1和Ex6存在复合点突变，其父母和双胎姐姐均为突变携带者。开展基因诊断有助于提高临床诊治水平。Objective To detect CYP17A1 gene mutation in a patient with 17 alpha-hydroxylase/17,20-1yase deficiency and her family members. Method Genomic DNA was extracted from the blood of the patient, her parents and twin sister. The 8 exons of CYP17A1 gene were amplified with polymerase chain reaction （PCR） and screened for mutations by sequencing. Result The analysis revealed that the patient was a compound heterozygote carrying two different inherited point mutations on CYP17A1 gene. They were nt186delC on exon 1 and ntlO85G 〉 A on exon 6. This type of mutation could induce 17OHD because of complete loss of 17 alpha-hydroxylase activities. And her parents and the twin sister were carriers on CYP17A1 gene. In addition, the mutation nt186delC was a novel point mutation and it was not discovered in normal children. Conclusion A new compound heterozygote carrying two different inherited point mutations on CYP17A1 gene was found, and her parents and twin sister were carriers. This is probably the first report in the world of a twin sisters of whom one is a patient with 17OHD and the other is a carrier of CYP17A1 gene mutation.

关 键 词：类固醇17-α-羟化酶 肾上腺增生 先天性 性腺障碍 CYP17A1基因 点突变 

分 类 号：R686[医药卫生—骨科学]