Korean J Leg Med.  2014 Aug;38(3):116-120. 10.7580/kjlm.2014.38.3.116.

DNA Analysis of a Microdeletion Case on Y Chromosome

• Lee JH
• Kim H
• Shinde V
• Shin DH
• Lee SD

• KMID: 2082762
• DOI: http://doi.org/10.7580/kjlm.2014.38.3.116

Abstract

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 differing distribution patterns with respect to Y-chromosome mutations. More detailed knowledge and information regarding Y-chromosome mutations might therefore provide insights into phylogenetic history and personal identification. Here, we describe a case study involving genotype-phenotype discrepancy in an Indian male individual. We found that the mistyping in sex determination was caused by a deletion in the amelogenin Y (AMEL Y) gene. Furthermore, on examining the short tandem repeat (Y-STR) loci using the PowerPlex(R) Y23 System, we found four more deleted loci on Yp11.2 (DYS576, DYS481, DYS570, and DYS458) in this sample. We performed deletion mapping for this sample, and we propose that the microdeletion on the Yp11.2 locus occurred approximately in the 6.44 Mb to 9.75 Mb region. Previous studies have reported that the AMEL Y deletion is a common mutation in the Indian population. Taking into account regional differences, we also analyzed several area-specific Y-chromosome mutations.

Keyword

AMELY; Y-STR; Deletion; Yp11.2

MeSH Terms

Amelogenin
DNA*
Humans
Male
Microsatellite Repeats
Recombination, Genetic
Y Chromosome*
Amelogenin
DNA

Figure

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  Fig. 1. This electropherogram is a sex typing result using autosomal test system.

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  Fig. 2. This electropherogram is a DNA Typing result using PowerPlex� Y-23 kit, indicates deletion at locus DYS576, DYS481, DYS570, DYS458.

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  Fig. 3. The deletion map based on approximate locations of each STS marker. The ‘+' indicates the presence and the ‘-'indicates the absence of each specific marker. Deletion around Yp11.2 occurred approximately in the range of 6.44Mb to 9.75 Mb.

Reference

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