两例17α-羟化酶/17,20碳链裂解酶缺陷症分子遗传学研究  

Molecular Genetic Analysis on two Patients with 17 Hydroxylase/17,20 Lyase Deficiency

作　　者：姚凤霞[1] 韩娟娟[1] 刘勇[2] 施惠萍[1] 黄尚志[1] 

机构地区：[1]中国医学科学院基础医学研究所/中国协和医科大学基础医学院医学遗传学系,北京100005 [2]北京协和医院骨科

出　　处：《医学研究杂志》2007年第5期26-29,共4页Journal of Medical Research

基　　金：科技部"十五"攻关项目(2004BA720A04);北京市科委科技重点项目(D0906005040491)

摘　　要：目的从分子遗传学方面初步探讨两例17α-羟化酶/17,20碳链裂解酶缺陷症(17OHD)患者的突变性质。方法用患者外周血白细胞DNA进行CYP17A1基因的8个外显子PCR扩增,并通过序列测定确定突变位置和性质。结果两患者均为CYP17A1基因突变的遗传复合体。病例1为Y329K,418X/P428L,病例2为Y329K,418X/P409R,Y329K,418X为插入缺失突变(TAC329AA),导致移码突变,在418位产生终止密码提前终止了蛋白质翻译。结论通过CYP17A1基因突变分析,确诊了两例17OHD患者。Objective To analyze molecular genetic characteristics of two Chinese patients with 17 - hydroxylation deficiency. Methods Eight exons of CYP17A1 gene were amplified by PCR. The mutations of the patients were characterized by direct sequencing of the amplified DNA fragments. Results Three mutations were identified, indels mutation Y329K,d18X, and missense mutations P282L and P409R. Both patients were genetic compound of mutant CYP17A1 with the Y329K,418X mutation in common. Conclusions Through CYP17A1 gene mutation analysis, the diagnosis of 17OHD was confirmed on these two patients.

关 键 词：17α-羟化酶/17 20碳链裂解酶缺陷症 CYP17A1基因 突变 

分 类 号：R339.21[医药卫生—人体生理学]