应用多个微卫星遗传标记对柳州地区10个APKD家系的基因诊断

GENE DIAGNOSIS OF 10 CHINESE FAMILIES WITH ADULT POLYCYSTIC KIDNEY DISEASE FROM GUANGXI REGION

目的探讨成人型多囊肾病（ＡＰＫＤ）症状前诊断。方法应用ＰＣＲ技术扩增ＰＫＤ１位点两侧的微卫星ＳＭ７、ＣＷ２、ＡＣ２．５和ＫＧ８为遗传标记，对广西柳州地区１０个ＡＰＫＤ家系９７名成员（包括２９名ＡＰＫＤ患者）进行基因连锁分析。结果被检测家系疾病均与ＰＫＤ１连锁，并确定７名２８岁以下无症状且Ｂ超未发现肾脏囊肿的个体为ＰＫＤ１基因携带者，从而作出症状前诊断。

Objective To study presymptomatic gene diagnosis in adult polycystic kidney disease (APKD). Methods Linkage analysis and haplotype characterization were carried out in 10 unrelated Chinese APKD families from Guangxi region, including 97 individuals and 29 affected members. Members of these families were ultrasonographically examined. Linkage to PKD1 was investigated in all families with four microsatellite markers(SM7, CW2, AC2.5, and KG8). These flanking markers were amplified by PCR.Results The families were fully informative for gene diagnosis and no evidence of genetic heterogeneity was found. DNA analysis predicted 7 asymptomatic individuals(by 28 years old) as being affected, although they all presented negative ultrasonographs.Conclusion Linkage analysis is still an important way in APKD presymptomatic gene diagnosis.