一性连锁Alport综合征中国家系COL4A5基因新突变位点的检测  

Detection of a Novel Mutation in COL4A5 Gene from a Chinese Family with X-linked Alport Syndrome

作　　者：彭春龙[1,2] 梁华[3] 邹庆玲[3] 汪净 刘长生[4] 张晓峰[4,5] 陈杰[3] 胡松年 

机构地区：[1]浙江大学生命科学学院 [2]杭州华大基因研发中心,杭州310008 [3]浙江大学医学院附属第二医院肾内科 [4]杭州华大基因研发中心 [5]浙江大学农业与生物技术学院农学系,杭州310029

出　　处：《Acta Genetica Sinica》2004年第11期1190-1195,共6页

摘　　要：通过PCR和直接测序的方法 ,对一性连锁Alport综合征家系 17个受检个体的COL4A5基因所有 5 1个外显子及其相邻内含子的DNA序列进行检测。结果发现 ,在第 2 6外显子 2 2 4 0位点 ,男患者存在C碱基缺失(2 2 4 0delC) ,女患者存在杂合缺失 ,同时对女患者相应的PCR产物进行克隆和测序以验证PCR测序结果的可靠性 ,而在正常家系成员和 80例对照中均未发现此位点异常 ,说明 2 2 4 0delC为引起该家系临床病变的突变位点 ,不是多态性位点。在性连锁Alport综合征中 。By means of PCR and direct sequencing,all 51 exons and their neighbouring intronic sequences of the COL4A5 gene were analyzed to detect mutations in 17 members from a Chinese family with X-linked Alport syndrome(XLAS).At the position 2240 in exon 26,a single-base deletion(2240delC) is found in all male patients,and a heterozygous deletion is found in all female patients,whereas no mutation is found in normal and 80 control individuals.Meanwhlie,the corresponding PCR products of female patients are cloned and sequenced to confirm the results.It is concluded that the 2240delC mutation is the underlying cause of XLAS in this family,not a polymorphism.Furthermore,this single-base deletion mutation in COL4A5 gene is first reported in X-linked Alport syndrome.

关 键 词：直接测序 性连锁Alport综合征 COL4A5基因 单碱基缺失突变 

分 类 号：R692.3[医药卫生—泌尿科学]