Abstract
Allele und genotype frequencies and the mutation rate of a short tandem repeat locus, the myelin basic protein (MBP) gene, were studied in 973 unrelated Koreans. The alleles were distributed in two discrete regions, one in a high molecular weight region (A) above 190 bp and the other in a low molecular weight region (B) below 150 bp. In a heterozygote, two alleles were found in each region. In region A 13 alleles were found and in region B 7 alleles. Most alleles showed a difference of 4 bp, but three interalleles were found in region A. Allele frequencies in Koreans differed from those reported for Germans and Portuguese. Sets of alleles, one from each region, were linked and transmitted to the offspring. A total of 36 haplotypes and 148 genotypes was identified. In 763 gametes of 550 families, whose parent-child relationship was confirmed using other serological and DNA systems, all alleles were transmitted in a Mendelian fashion, and no mutations were observed. The polymorphism information content (PIC) in Koreans was calculated as 0.833 for region A and 0.718 for region B. The power of discrimination (PD) was 0.959 for region A and 0.901 for region B. No significant deviation from Hardy-Weinberg equilibrium could be observed for this system.
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