지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
초록· 키워드
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The Y-chromosome, as with other chromosomes in the cell, is subject to mutations.
However, unlike autosomal genes, the Y chromosome does not undergo recombination,and therefore individuals from different geographical regions may have differingdistribution patterns with respect to Y-chromosome mutations. More detailed knowledgeand information regarding Y-chromosome mutations might therefore provideinsights into phylogenetic history and personal identification. Here, we describe a casestudy involving genotype-phenotype discrepancy in an Indian male individual. Wefound that the mistyping in sex determination was caused by a deletion in the amelogeninY (AMEL Y) gene. Furthermore, on examining the short tandem repeat (Y-STR)loci using the PowerPlexⓐ Y23 System, we found four more deleted loci on Yp11.2(DYS576, DYS481, DYS570, and DYS458) in this sample. We performed deletionmapping for this sample, and we propose that the microdeletion on the Yp11.2 locusoccurred approximately in the 6.44 Mb to 9.75 Mb region. Previous studies havereported that the AMEL Y deletion is a common mutation in the Indian population.
Taking into account regional differences, we also analyzed several area-specific Ychromosomemutations.
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참고문헌 (10)
참고문헌 신청
Chang YM / 2007 / A distinct Y-STR haplotype for Amelogenin negative males characterized by a large Y(p)11.2 (DYS458-MSY1-AMEL-Y) deletion / Forensic Sci Int 166 : 115 ~ 120
Chen W / 2014 / Detection of the deletion on Yp11.2 in a Chinese population / Forensic Sci Int Genet 8 : 73 ~ 79
Hares DR / 2012 / Expanding the CODIS core loci in the United States / Forensic Sci Int Genet 6 : e52 ~ e54
Jobling MA / 2007 / Structural variation on the short arm of the human Y chromosome : recurrent multigene deletions encompassing Amelogenin Y / Hum Mol Genet 16 : 307 ~ 316
Kumagai R / 2008 / DNA analysis of family members with deletion in Yp11.2 region containing amelogenin locus / Leg Med 10 : 39 ~ 42
Chen W / 2014 / Detection of the deletion on Yp11.2 in a Chinese population / Forensic Sci Int Genet 8 : 73 ~ 79
Hares DR / 2012 / Expanding the CODIS core loci in the United States / Forensic Sci Int Genet 6 : e52 ~ e54
Jobling MA / 2007 / Structural variation on the short arm of the human Y chromosome : recurrent multigene deletions encompassing Amelogenin Y / Hum Mol Genet 16 : 307 ~ 316
Kumagai R / 2008 / DNA analysis of family members with deletion in Yp11.2 region containing amelogenin locus / Leg Med 10 : 39 ~ 42
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