Characterization of microsatellite markers to diagnose ADPKD.
Autosomal dominant polycystic kidney disease (ADPKD) maps to chromosome 16p13.3 (PKD1) and to chromosome 4q21-23 (PKD2), with the likelihood of a third unmapped locus. The size and genomic complexity of the PKD1 gene make it impractical to detect mutations for prenatal diagnosis. Therefore, pedigree-based linkage analysis remains useful for diagnosis of ADPKD. Since, the complete genome sequences of chromosome 16p13.3 and 4q21-23 including PKD1 and PKD2, respectively, were reported very recently, in order to do more precise diagnosis of ADPKD, we tried to find microsatellite markers. We performed database searches of 2000 kb of genome sequence across the 16p13.3 and the 4q21-23. To determine the distribution of alleles and the degree of polymorphism of the microsatellites, genotyping experiments were performed on 48 Korean individuals. We found novel 14 microsatellite markers around ADPKD that are more polymorphic and closer to PKD1 or PKD2 than the known markers. The novel microsatellite markers were applied to diagnose ADPKD families. These novel microsatellite markers are not only useful for presymptomatic and prenatal diagnosis of ADPKD, but also applicable in the study of positional cloning, human evolution and tumor biology.
Bae
Yoonhee
Y
Graduate School of Biotechnology, Korea University, Seoul 136-701, South Korea.
Kim
Hyunho
H
Paik
Myoah
M
Lee
Junggeon
J
Hwang
Daeyeon
D
Hwang
Younghwan
Y
Ahn
Curie
C
Kang
Seongman
S
D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007723:Korea; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D018895:Microsatellite Repeats / Q000235:genetics*; D010375:Pedigree; D020161:Physical Chromosome Mapping; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis* / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D011506:Proteins / Q000235:genetics; D050396:TRPP Cation Channels
D008565:Membrane Proteins; D011506:Proteins; D050396:TRPP Cation Channels