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KMID : 1144820210270020105
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대한의생명과학회지
2021 Volume.27 No. 2 p.105 ~ p.110
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Mutation Cases in the Korean Population using 23 Autosomal STR Loci Analysis
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Kim Jeong-Yong
Kim Hyo-Jeong
Lee Ja-Hyun
Kim Hyo-Sook
Kim Eung-Soo
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Abstract
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Short Tandem Repeats (STR) analysis which characterized by genetic polymorphism has been widely used in the forensic genetic fields. Unfortunately, mutation occurred in various STR loci could make it difficult to interpret STR data. Thus, the mutation rate of STR loci plays an important role for the data interpretation in human identification and paternity test. To verify the mutation of the STR loci in the Korean population, 545 trio sets (father, mother, and child) were analyzed with two commercial STR kits that include the 23 autosomal STR loci (D1S1656, TPOX, D2S441, D2S1338, D3S1358, FGA, D5S818, CSF1PO, D7S820, D8S1179, D10S1248, TH01, D12S391, VWA D13S317, D16S539, D18S51, D19S433, D21S11, D22S1045, SE33, Penta E and Penta D). As a result, 36 mutations were observed in 14 STR loci. The types of mutation were also classified by the increase or decrease of the alleles. The overall mutation rate was 1.4×10-3, and the paternal mutation rate was four times higher than that of the maternal. This study will provide more detailed criterion for human identification by the mutation rate of STR loci in the Korean population.
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KEYWORD
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Autosomal DNA, Short Tandem Repeats (STR), Mutation, Korean population
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