Genotype Analysis in Korean Families with Autosomal Dominant Polycystic Kidney Disease(ADPKD).
- Author:
Jung Geun LEE
1
;
Curie AHN
;
Dae Yeon HWANG
;
Young Hwan HWANG
;
Hyun Seon EO
;
Hee Jin CHAE
;
Eun Joo LEE
;
Jong Tae CHO
;
Yon Su KIM
;
Jin Suk HAN
;
Suhng Gwon KIM
;
Jung Sang LEE
Author Information
1. Department of Internal Medicine, Eulji Medical College, Korea.
- Publication Type:Original Article
- Keywords:
Autosomal dominant polycystic kidney disease(ADPKD);
Linkage analysis;
Korean
- MeSH:
Adult;
Alleles;
Asian Continental Ancestry Group;
DNA;
Genetic Loci;
Genotype*;
Humans;
Korea;
Microsatellite Repeats;
Molecular Biology;
Polycystic Kidney, Autosomal Dominant*;
Polymerase Chain Reaction;
Prevalence;
Prognosis;
Renal Insufficiency;
Stroke;
Ultrasonography
- From:Korean Journal of Nephrology
2000;19(4):649-657
- CountryRepublic of Korea
- Language:Korean
-
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 markers(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 our data shows a similar percentage of PKD1(88%) and PKD2(12%) in Korean patients as in the Western population.
