Genetic heterogeneity in Korean families with autosomal-dominant polycystic kidney disease (ADPKD): The first Asian report

Jung Geon Lee, Kyu Beck Lee, Un Kyung Kim, Curie Ahn, Dae Yeon Hwang, Young Hwan Hwang, Hyun Seon Eo, Eun Joo Lee, Yon Su Kim, Jin Suk Han, Suhnggwon Kim, Jung Sang Lee

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Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease in adults, and the prevalence of this disease within the chronic haemodialysis patient population is known to be approximately 2% in Korea. So far, three genetic locus 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 in Asian populations. Methods: 48 families with hereditary renal cysts were recruited by consent and their molecular genetic characteristics were studied. Linkage analysis was done with microsatellite markers (PKD1: SM7, UT581, AC2.5, KG8, D16S418; PKD2: D4S423, D4S1534, D4S1542, D4S1544, D4S2460). Genomic DNA polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE) gel run were performed, and the resultant allele patterns were compared with sonographic findings. Results: The results of this study showed that the ratio PKD1:PKD2 was 31:8, and that the PKD2 families exhibited a tendency toward a milder renal prognosis than the PKD1 families. Conclusion: We confirmed the applicability of linkage analysis for ADPKD in the Korean population, and our data confirmed a similar incidence of PKD1 (79%) and PKD2 (21%) in Korean patients as in the Western population.

Original languageEnglish
Pages (from-to)138-144
Number of pages7
JournalClinical Genetics
Issue number2
StatePublished - 8 Sep 2001


  • Asian
  • Autosomal-dominant polycystic kidney disease (ADPKD)
  • Korean
  • Linkage analysis

Cite this

Lee, J. G., Lee, K. B., Kim, U. K., Ahn, C., Hwang, D. Y., Hwang, Y. H., Eo, H. S., Lee, E. J., Kim, Y. S., Han, J. S., Kim, S., & Lee, J. S. (2001). Genetic heterogeneity in Korean families with autosomal-dominant polycystic kidney disease (ADPKD): The first Asian report. Clinical Genetics, 60(2), 138-144.