Analysis of the alleles and the Genotypes at the VNTR D1S80 Locus in Koreans.

Korean J Leg Med. 1997 May;21(1):75-86. Korean.

Department of Forensic Medicine and Department of Pathology, Chonnam University Medical School, Kwangju, Korea

Alleles and genotype frequencies and its distribution pattern for the highly polymorphic D1S80 locus were determined in a Korean population sample, especially in Kwangju and Chonnam, by using PCR followed by agarose gel electrophoresis with ethidium bromide staining, a procedure called the amplified-fragment-length polymorphism(Amp-FLP) technique. And the data were compared with the alleles and genotype frequencies of Finnish population, North American Caucasian, and Korean population(Seoul) which had been reported. In 203 unrelated Korean individuals 27 alleles and 84 genotypes were observed. The highest allele frequency was in allele M24(0.128) and tne next orders were inalleles M18(0.126), M29, M30, M31, and M28 and the other alleles showed relatively low frequencies. The highest frequency of genotype was in M18/M24 and the next order frequencies were M18/M30, M19/M27 M29/M29, and M18/M29. The homozyous genotypes were in 9 alleles such as M29, M24, M31, and M18, and most of heterozygous genotypes were composed of alleles of each homozygous genotypes and /or the other alleles, its composition of genotypes was 0.881(74/84), 183(0.901) of the 203 individuals alleles, its composition of genotypes was 0.881(74/84), 183(0.901) of the 203 individuals alleles, its composition of genotypes was 0.881(74/84), 183(0.901) of the 203 individuals were included. The VNTR D1S80 locus demonstrated a heterozygosity of 0.872. From the above results, VNTR D1S80 locus may be a powerful locus to identify individuals, however, the allele frequencies was not closely related to the genotype pattern, and the alleles of homozygous genotypes influenced on the chance of the recombination of the various genotypes. It is necessary to analyze the genotype distribution and the recombination pattern of alleles as well as alleles and genotype frequencies in each populations for statistical test at most highly polymorphic loci.