Y 염색체 단완 미세결실 유전자검사 사례보고

• Published in: 대한법의학회지, 38(3) pp. 116 - 120
• Main Authors: 이지현, 신동훈, 이숭덕, 김한나, V. Shinde
• Format: Journal Article
• Language: Korean
• Published: 대한법의학회 01.08.2014
• Subjects: 기타의약학
• ISSN: 2383-5702; 2383-5710

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. KCI Citation Count: 0