一成人型多囊肾家系的遗传检测及产前诊断  

Genetic detection and prenatal diagnosis of autosomal dominant polycystic kidney disease in a family

作　　者：李晓侨[1] 姚凤霞[2] 孟岩[1] 王铮[1] 彭园园[1] 佃艳[1] 黄尚志[1,2] 

机构地区：[1]中国医学科学院基础医学研究所北京协和医学院基础学院医学遗传学系WHO遗传病社区控制合作中心 [2]北京协和医院产前诊断中心,北京100005

出　　处：《基础医学与临床》2009年第6期593-597,共5页Basic and Clinical Medicine

基　　金：科技部"十一五"国家科技支撑计划(2006BIA05A08);北京市科学技术委员会研发攻关类基金(D0906005040491)

摘　　要：目的对一常染色体显性遗传性多囊肾病(ADPKD)家系进行致病基因突变鉴定,并对先证者妻子首次妊娠进行产前诊断。方法用聚合酶链式反应,通过微卫星标记进行基因定位、DNA序列测定,确定基因突变;用AS-PCR对家系其他患者成员进行突变点检测和筛查;联合应用突变检测和连锁分析进行产前诊断。结果该家系中多囊肾疾病的致病基因为PKD2,突变为外显子5中c.1249C(T(p.R417X);胎儿产前诊断结果显示未获得致病突变。结论该家系的致病突变为c.1249C(T(p.R417X),成功进行了产前诊断。Objective To elucidate the genetic defect of autosomal dominant polycystic kidney disease in a Chinese family and to perform prenatal linkage analysis of polymorphic diagnosis for the proband＇s wife. Methods Disease-causing gene was located by markers. Mutations was screened by direct sequencing the exons and the flanking introns amplified by polymerase chain reaction （PCR）. Other patients in the family were screened by allele-specific PCR （AS-PCR）. Prenatal diagnosis was carried out with linkage analysis and mutation detection. Results A point mutation of c. 1249C 〉 T（p. R417X） in exon 5 of PKD2 gene was identified. The fetus did not carry the mutant allele. Conclusion The mutation of c. 1249C 〉 T（p. R417X） is responsible for the ADPKD in this family and the prenatal diagnosis was carried out successfully.

关 键 词：成人型多囊肾 PKD2基因 AS-PCR 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学] R692.1[医药卫生—临床医学]