五个17α-羟化酶／17，20碳链裂解酶缺陷症家系七例患者的临床和分子遗传学研究  

Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17α-hydroxylase/17, 20 lyase deficiency

作　　者：刘炳丽[1] 乔洁 陈霞[3] 梁军 左春林[1] 顾燕云[1] 韩兵[1] 龚静 汝颖[1] 陆颖理 吴万龄 陈名道[1] 宋怀东[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院内分泌代谢病研究所,分子医学中心,200025 [2]附属第九人民医院内分泌科 [3]南京医科大学第一附属医院老年科 [4]江苏省徐州中心医院内分泌科

出　　处：《中华医学遗传学杂志》2009年第3期282-287,共6页Chinese Journal of Medical Genetics

摘　　要：目的对5个家系的7例17α-羟化酶／17，20-碳链酶缺陷症（17α-hydroxylase／17，20lyase deficiency，170HD）患者进行基因突变检测，并探讨中国人170HD的基因突变特点及杂合子携带情况。方法收集临床资料，进行激素水平测定，并对患者CYP17A1基因采用PCR扩增产物直接测序及亚克隆测序的方法明确。对288名山东正常人的CYP17A1基因采用PCR及限制性酶切片段长度多态性进行基因突变分析。结果7例患者（5例为46，XX；2例为46，XY）均存在第二性征不发育、高血压、低血钾，性激素及皮质醇明显低于正常，共发现3种基因突变类型，TAC329AA，D487-F489del和H373L。在288名山东人群中进行筛查，发现1例D487-F489del的杂合携带者。结论TAC329AA和D487-F489del为中国人最常见的突变类型，170HD在中国人发病率较预料中的要高，D487-F489del的杂合携带者在中国人群中有一定的比例。Objective To investigate the clinical and genetic characteristics of 7 patients from 5 families with 17α-hydroxylase/17,20 lyase deficiency （17OHD） and the CYP17A1 mutation in Chinese. Methods Clinical features and laboratory data were collected from 5 families with 17OHD. PCR direct sequencing was performed to screen the mutation of CYP17A1 gene of the patients. Polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） and sequencing were performed to screen the mutations of CYP17A1 gene in 288 healthy individuals from Shandong province. Results Seven patients （5 of them were 46, XX; 2 were 46, XY） had typical clinical presentation of sexual infantilism, hypertension and hypokalemia. Hormone profile indicated decreased plasma cotisol and sex hormones, and elevated blood adrenocorticotrophic hormone （ACTH）. TAC329AA and H373L in exon 6 and D487_ F489del in exon 8 were identified from the patients. One heterozygote for D487_F489del was identified in 288 healthy controls. Conclusion The TAC329AA and D487_F489del of the CYP17A1 gene were the most frequent mutations in Chinese with 17OHD. There might be certain frequency of heterozygotes for D487_ F489del in Chinese population.

关 键 词：17α-羟化酶/17 20-碳链酶缺陷症 CYP17A1基因 基因突变 杂合子携带频率 

分 类 号：R686[医药卫生—骨科学]