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成人型多囊肾病(adult polycystic kidney disease,APKD)属常染色体显性遗传病,发病率高达1‰。笔者1990年首先在国内开展该病的基因诊断研究。几年来应用3’HVR探针和APKD致病基因(PKD_1)两侧的4种探针(3’HVR、PGGG_1、218EP_6和24-1)分别对15个APKD家系进行了连续分析,从基因水平上为112个个体进行基因诊断,检测出52例APKD基因携带者,其中15例属症状前诊
Adult polycystic kidney disease (APKD) is an autosomal dominant disease with a prevalence of up to 1 ‰. The author first in 1990 to carry out genetic diagnosis of the disease in the country. In recent years, 15 APKD pedigrees were sequenced using 4 probes (3’HVR, PGGG_1, 218EP_6 and 24-1) flanked by 3’HVR probe and APKD pathogenicity gene (PKD_1) On 112 individuals for genetic diagnosis, detection of 52 APKD gene carriers, of which 15 were symptoms of pre-diagnosis