A Japanese-specific allele in the GALNT11 gene

Yuasa, Isao; Umetsu, Kazuo; Matsusue, Aya; Nishimukai, Hiroaki; Harihara, Shinji; Fukumori, Yasuo; Saitou, Naruya; Jin, Feng; Chattopadhyay, Prasanta K.; Henke, Lotte; Henke, Jürgen

doi:10.1016/j.legalmed.2010.04.001

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Volume 12, Issue 4 , Pages 208-211, July 2010

A Japanese-specific allele in the GALNT11 gene

Isao Yuasa
- Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan
- Corresponding author. Tel.: +81 859 38 6123; fax: +81 859 38 6120.
Kazuo Umetsu
- Department of Forensic Medicine, Faculty of Medicine, Yamagata University, Yamagata, Japan
Aya Matsusue
- Department of Forensic Medicine, Fukuoka University School of Medicine, Fukuoka, Japan
Hiroaki Nishimukai
- Division of Legal Medicine, Ehime University School of Medicine, Ehime, Japan
Shinji Harihara
- Department of Biological Sciences, Graduate School of Science, University of Tokyo, Tokyo, Japan
Yasuo Fukumori
- Osaka Red Cross Blood Center, Osaka, Japan
Naruya Saitou
- Division of Population Genetics, National Institute of Genetics, Mishima, Japan
Feng Jin
- Institute of Psychology, Chinese Academy of Sciences, Beijing, China
Prasanta K. Chattopadhyay
- Amity Institute of Forensic Sciences, Defence Colony, New Delhi, India
Lotte Henke
- Institut für Blutgruppenforschung, Cologne, Germany
Jürgen Henke
- Institut für Blutgruppenforschung, Cologne, Germany

Received 15 February 2010; received in revised form 29 March 2010; accepted 4 April 2010. published online 24 May 2010.

Abstract

In this study, five single nucleotide polymorphisms (SNPs) in the ABCC4, FBN1, CEP152, ZNF804B, and GALNT11 genes were investigated to assess allele frequencies in 14 different populations by a novel pentaplex PCR method. All SNPs were polymorphic in East Asians, whereas mutant alleles were absent or rare in non-East Asians. The frequencies of a mutant allele in FBN1 (rs140598) showed a north–south downward cline in East Asia, whereas those of a mutant allele in ZNF804B (rs1916830) were relatively uniform in East Asia. The highest frequencies of mutant alleles in ABCC4 (rs3765534), CEP152 (rs2289178), and GALNT11 (rs3778922) were observed in Okinawa. The mutant allele in GALNT11 was found only in Far-East Asian populations: the frequencies were about 0.153 in Okinawa, 0.076 in the main island of Japan, and 0.017–0.004 in Korea. These five East Asian- and Japanese-specific SNPs would be useful markers for forensic individualization, in particular, as ancestry-informative markers.

Keywords: Ancestry-informative markers (AIMs), Genotyping, Single nucleotide polymorphism (SNP), Population-specific, Population study