ETHNIC-DIFFERENCES IN ALLELE FREQUENCIES OF 2 MICROSATELLITE MARKERS CLOSELY LINKED TO THE LOCUS FOR POLYCYSTIC KIDNEY-DISEASE-1 (PKD1)

Two microsatellite markers, D16S283 and D16S284, closely linked to the locus of autosomal polycystic kidney disease (PKD1), were amplified i n a Japanese population sample by the polymerase chain reaction to inv estigate differences in allele frequencies between Japanese and Caucas ian populations. Ten D16S283 alleles and four D16S284 alleles were dis cerned among 53 Japanese. The observed heterozygosities of D16S283 and D16S284 in this study were 76.8 and 9.1%, and the polymorphism-inform ative contents were 0.75 and 0.09, respectively. Several allele freque ncies of D16S283 exhibited significant differences. The Y9 allele (19 CA repeats, 91 bp) was the most frequent in both populations but its f requency in Caucasians was higher. The second most frequent allele was different: Y6 (22 CA repeats, 97 bp) in Japanese and Y10 (18 CA repea ts, 89 bp) in Caucasians. Y8 (20 CA repeats, 93 bp) and Y11 (17 CA rep eats, 87 bp) alleles also showed different frequencies. For D16S284, n o differences in allele frequencies were observed between the two popu lations. As we observed differences in allele frequencies for D16S283, an association study with this polymorphism should carefully control for the ethnic origin of subjects.