摘要
目的：应用ＰＣＲ方法对常染色体显性遗传性多囊肾病（ＡＤＰＫＤ）家系进行症前基因诊断。方法：用ＰＣＲ扩增与ＰＫＤ１位点连锁的的高度多态性的微小卫星体ＤＮＡ（ＳＭ７，ＡＣ２．５，ＫＧ８，ＣＷ２）为遗传标记，对１０个ＡＤＰＫＤ家系的１０４个成员（包括２８个患者）找出染色体上与疾病连锁的单体型，进行连锁分析。结果：对９个无临床症状，且Ｂ超检查呈阴性结果的儿童做出了症前基因诊断。结论：能够应用ＰＣＲ方法对ＡＤＰ－ＫＤ家系成员快速。
Objective: Presymptomatic gene diagnosis of autosomal dominant polycystic kidney disease families by PCR Methods: Genomic DNA were extracted Highly polymorphic microsatellite markers(SM7, AG2 5, KG8, CW2) linked to the PKD1were amplified using PCR Ten ADPKD families (104 members,including 28 affected) were analysed Results: Nine children were diagnosed with presymptomatic gene diagnosis ,although all children presented a negative ultrasonic diagnosis Conclusion: The presymptomatic gene diagnosis could be done using PCR method
出处
《广西医学》
CAS
1999年第1期21-23,共3页
Guangxi Medical Journal
