应用PCR技术进行常染色体显性遗传多囊肾病家系的基因诊断  

GENE DIAGNOSIS OF CHINESE FAMILISES WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNHEY DISEASE USING PCR METHOD

作　　者：朱世乐[1] 张宏[1] 白千帆[1] 李少英[1] 刘玉春[1] 王海燕[1] 

机构地区：[1]北京医科大学第一医院肾内科

出　　处：《北京医科大学学报》1996年第6期419-421,共3页Journal of Peking University(Health Sciences)

基　　金：国家"八五"科技攻关课题;国家教委博士点基金

摘　　要：目的：用ＰＣＲ方法对中国的常染色体显性遗传多囊肾病（ＡＤＰＫＤ）家系进行基因诊断。方法：提取基因组ＤＮＡ，用ＰＣＲ方法扩增与ＰＫＤ１位点连锁的高度多态性的微小卫星体ＤＮＡ（ＳＭ７，ＡＣ２．５，ＳＭ６，ＫＧ８）为遗传标记，进行家系分析。对２２个ＡＤＰＫＤ家系的１５６个成员（包括６８个患者）找出染色体上与疾病连锁的单体型，进行了连锁分析。结果：２１个被测家系提供了基因诊断信息；另一个家系显示重组或不连锁。结论：能够采用ＰＣＲ方法对中国的ＡＤＰＫＤ家系进行基因诊断。Objective:Gene diagaosis of Chinese families with autosomal dominant polycystic kidney dis-ease,Methods:Genomic DNA were extracted.Highly polymorphic microsatellite markers(SM7, AC 2.5,SM6,KG8)linked to the PKD1 were amplified using PCR.Twenty-two Chinese ADPKD families(156 members,including 68 affected were analysed).Results:Twenty-one examined families were fully informative for linkage analysis.The other one family showed a recombination event or unlinked evi-dence. Conclusion:Gene diagnosis could be done in Chinese families with ADPKD using PCR method.

关 键 词：聚合酶链反应 多囊肾 常染色体显性 基因诊断 

分 类 号：R692.120.4[医药卫生—泌尿科学]