Allele und genotype frequencies and the mutation rate of a short tande
m repeat locus, the myelin basic protein (MBP) gene, were studied in 9
73 unrelated Koreans. The alleles were distributed in two discrete reg
ions, one in a high molecular weight region (A) above 190 bp and the o
ther in a low molecular weight region (B) below 150 bp. In a heterozyg
ote, two alleles were found in each region. In region A 13 alleles wer
e found and in region B 7 alleles. Most alleles showed a difference of
4 bp, but three interalleles were found in region A. Allele frequenci
es 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 identif
ied. In 763 gametes of 550 families, whose parent-child relationship w
as confirmed using other serological and DNA systems, all alleles were
transmitted in a Mendelian fashion, and no mutations were observed. T
he polymorphism information content (PIG) in Koreans was calculated as
0.833 for region A and 0.718 for region B. The power of discriminatio
n (PD) was 0.959 for region A and 0.901 for region B. No significant d
eviation from Hardy-Weinberg equilibrium could be observed for this sy
stem.