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KMID : 0389420110190030261
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Korean Journal of Stress Research
2011 Volume.19 No. 3 p.261 ~ p.266
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Assessment of Genotype Frequencies of Thirteen Polymorphisms in Y Chromosome
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Kim Su-Kang
Lee Jong-Yoon
Chung Joo-Ho
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Abstract
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The aim of this study was to investigate the genotype frequencies of thirteen single nucleotide polymorphisms (SNPs) in eight Y chromosome genes, including ribosomal protein S4, Y-linked 1 (RPS4Y1), transducin (beta)-like 1 (TBL1Y), Y-linked ubiquitin specific peptidase 9, Y-linked (USP9Y), ubiquitously transcribed tetratricopeptide repeat gene, Y-linked (UTY), neuroligin 4, Y-linked (NLGN4Y), chromosome Y open reading frame 15A (CYorf15A), lysine (K)-specific demethylase 5D (KDM5D), and eukaryotic translation initiation factor 1A, Y-linked (EIF1AY). A total of 284 healthy male individuals were recruited in the present study. Polymorphisms of Y chromosome genes were genotyped using direct sequencing. Minor homozygote distributions of rs2075640 (0.174) in RPS4Y1, rs7067496 (0.181) in USP9Y, rs2032666 (0.145) in UTY, rs38633116 (0.237) in NLGN4Y, and rs3900 (0.184) in CYorf15A were above 0.100. Minor homozygote distributions of rs2299942 (0.011) in RPS4Y1, rs2072422 (0.039) in UTY, rs2032621 (0.035) in KDM5D, and rs17323322 (0.089) in EIF1AY were below 0.100. Rs9783225 and rs34555473 in TBL1Y, rs20319 in USP9Y, and rs34289137 in CYorf15A showed monomorphic genotype. This is the first report with population data on genotype frequencies of rs2299942, rs97856225, rs34555473, rs20319, rs7067496, and rs34289137. In conclusion, our data could be helpful on the molecular and genetic studies of Y chromosome.
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KEYWORD
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Gene, Genotype, Single nucleotide polymorphism, Y chromosome
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