摘要
目的 通过对一个 17α 羟化酶缺陷症家系的临床和分子生物学研究 ,探讨其分子机制。方法 针对在本中心就诊的一个 17α 羟化酶缺陷症家系 ,全面收集患者及其家庭成员的临床和实验室资料 ,同时采用PCR和亚克隆测序方法检测 17羟化酶基因 (CYP17A1)序列。结果 患者临床及内分泌功能检查完全符合 17α 羟化酶缺陷症。CYP17A1基因序列分析发现 ,第 6号外显子 3 2 9位密码子发生了TAC3 2 9AA突变 ,引起Tyr3 2 9Lys错义突变和以后的移码突变。患者为纯合突变 ,患者的父母均为携带该突变基因的杂合子。结论 本研究的这个家系 ,CYP17A1基因突变是 17α 羟化酶缺陷症的致病基因。CYP17A1第 6号外显子 3 2 9位密码子TAC被AA替代为一新的纯合突变类型。
Objective To explore the molecular defects of CYP17A1 gene in a family with 17α-hydroxylase deficiency. Methods Clinical features and laboratory data were collected from the pedigree with 17α-hydroxylase derficiency and the proband was hospitalized in Shanghai Clinical Center for Endocrine and Metabolic Diseases. PCR and subclone sequencing were performed to screen the mutations of CYP17A1 gene. Results The patient was diagnosed as 17α-hydroxylase deficiency according to the clinical presentations, laboratory examination and blood level of steroid hormones. A new type of mutation was identified as a base deletion and a base transversion (TAC/AA) at codon 329 in the patient. It produced a missense mutation of Tyr→Lys at codon 329 and the open reading frame shift following this codon. The patient was homozygous mutation and her parents were heterozygote carrying TAC329AA mutation. Conclusion 17α-hydroxylase deficiency in this family was caused by CYP17A1 mutation (TAC329AA) which was first identified as a complex defects of missense mutation and the open reading frame shift at codon 329.
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
2004年第6期568-571,共4页
Chinese Journal of Endocrinology and Metabolism
基金
上海市教委课题 (E0 30 0 7)
