With the human genomic DNAs obtained from 128 unrelated Korean, the VNTR region 3' to the collagen type II gene(COL2A1) was amplified in vitro by the polymerase chain reaction(PCR), and separated by 3% agarose(2% Nusieve and1% Seakem) and 4%
polyacrylamide gel' and analyzed to get the population genetic data for COL2A1 VNTR allele such as allele and genotype frequencies, and hetrozygosity were calculated based on the amplified fragments length polymorphism(AMR-FLP).
1. In 128 unrelated Korean, 4 allelic variants(K2, K3, K4,and K5) at COL2A1 VNTR locus are observed, but K1allele which was also observed in other study was not.
2. The observed allele frequencies for K4, K5, K3 and K2 are 0.519, 0.383, 0.094 and 0.008, respectively.
3. Of 10 possible genotypes, only 4 heterozygous genotypes(K5/K4, K5/K3, K4/K3, K4/K2) and 2 homozygous genotypes(K5/K5, K4/K4) are observed. However, the observed numbers of homozygous and heterozygous genotypes genotypes(46and 82,
respectively)are
not significantly different from their expectations, 53.3 and 74.7.
4. The observed genotype frequencies are ordered as K5/K4 (0.445), K4/K4(0.242), K5/K5(0.117), K5/K3(0.086) andK4/K2(0.086), which are in accordance with the Hardy-weinberg prediction based on the observed allele frequencies.
5. The overall heterozygosity at this locus is 0.563, while its expectation based on the allele frequencies is 0.584.
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