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KMID : 1161520060100020065
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Animal Cells and Systems
2006 Volume.10 No. 2 p.65 ~ p.71
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Characterization of microsatellite markers closely linked with PKD loci in the Korean population
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Kim Un-Kyung
Lee Kyu-Beck
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Abstract
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Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common inherited renal disorders in the world. Mutations in PKD1 located on chromosome 16p13.3 are responsible for 85% of all the ADPKD patients whereas mutations in PKD2 on chromosome 4q21?23 are responsible for the rest of the cases. Genetic heterogeneity and the problems of mutation detection in PKD1 suggest that linkage analysis is an important approach to study the genetics of ADPKD. To evaluate the availability of six (CA)n microsatellite markers for the linkage analysis of ADPKD in the Korean population, we examined the allele frequencies and heterozygosities of the markers. With the exception of KG8, five markers were highly informative, with PIC values over 0.5, but the PIC value of KG8 marker was less informative than other five markers because of the low number of alleles. Therefore, this study will be useful in linkage analysis for ADPKD families in the Korean population.
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KEYWORD
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Autosomal dominant polycystic kidney disease (ADPKD), PKD1 gene, PKD2 gene, linkage analysis, Koreans
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