Korean Journal of Nephrology 2000;19(4):649-657.

한국인 상염색체 우성 다낭신 가계에서의 유전자 아형분석 (Genotype Analysis in Korean Families with Autosomal Dominant Polycystic Kidney Disease ( ADPKD ))

이중건(Joong Geun Lee),안규리(Gyu Ree An),황대연(Dae Yeon Hwang),황영환(Young Hwan Hwang),어현선(Hyun Sun Eo),채희진(Hee Jin Chae),이은주(Eun Joo Lee),조종태(Jong Tae Jo),김연수(Yeon Soo Kim),한진석(Jin Suk Han),김성권(Sung Gwon Kim),이정상(Jung Sang Lee)

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease in adults, and its major morbidities are renal failure and cerebrovascular accident. The prevalence of this disease in the chronic haemodialysis patient population is known to be approximately 2% in Korea. So far, three genetic loci have been identified as being responsible for ADPKD, and approximately 85% of the cases in Western countries are related to the PKD1 gene. However, little information is available concerning the pattern of linkage analysis or the mutations present in Asian populations. For this study, 35 families with hereditary renal cysts were recruited from our ADPKD clinic from 1993 to the present, and their molecular genetic characteristics were studied. Subjects were chosen according to the criteria of Ravine et al. Linkage analysis was done with microsatellite makers(PKD1:SM7, UT581, AC2.5, KG8, D16S418, PKD2: D4S423, D4S1534, D4S1542, D4S1544, D4S2460). Genomic DNA PCR and PAGE gel run were done, and the allele patterns were compared with sonographic findings. The results of this study showed that the ratio of PKD1 to PKD2 was 23:3, and PKD2 families showed the tendency of milder renal prognosis than PKD1 families. In conclusion, we confirmed the usefulness of linkage analysis for ADPKD in Korean population, and aur data shows a similar percentage of PKD1(88%) and PKD2(12%) in Korean patients as in the Western population.