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KMID : 0357820050290010033
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Korean Journal of Legal Medicine
2005 Volume.29 No. 1 p.33 ~ p.46
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Polymorphism and Mutation of C-Stretch of the D-loop of Mitochondrial DNA
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Lee Young-Jik
Kim Ji-Young
Chung Jae-Hun
Park Jong-Tae
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Abstract
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To investigate the polymorphism and mutation of the C-stretch of the D-loop in mitochondrial DNA in the maternal lineages in Koreans, Amp-FLP (amplified fragment length polymorphism), cloning and sequencing, and analysis of overlapped signals of the end of C-stretch after enlargement of Y axis of electropherogram were performed in 104 random objects and 63 families which are confirmed by STR analysis of autosome, Y chromosome, X chromosome and D-loop of mitochondrial DNA. Analysis of Amp-FLP and enlargement of Y axis of electropherogram are better than sequencing after cloning in the analysis of C-stretch. C- stretch 16183 has 15 genotypes, C-stretch 303 has 14 genotypes, C-stretch 568 has 6 genotypes, These results are useful for individual identification. However, mutation of C-stretch 16183, C-stretch 303, and C-stretch 568 were observed in 5 (7.9%), 7 (11.1%), and 1 (1.6%) cases among the 63 families. It means the C-stretch cannot be applied to analyze the genetic pattern in the maternal lineages. Conclusively, Amp-FLP and enelargement of Y axis of electropherogram are enough for analysis of C-stretch. Analysis of C-stretch is useful for individual identification and not in the study of maternal lineages.
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KEYWORD
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Mitochondrial DNA, D-loop, C-stretch, Polymorphism and Mutation, Maternal lineage
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