title: A Japanese-specific allele in the GALNT11 gene.
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.
authors.affiliation: Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan. yuasai@med.tottori-u.ac.jp
authors.forename: Isao
authors.initials: I
authors.lastname: Yuasa
authors.forename: Kazuo
authors.initials: K
authors.lastname: Umetsu
authors.forename: Aya
authors.initials: A
authors.lastname: Matsusue
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Nishimukai
authors.forename: Shinji
authors.initials: S
authors.lastname: Harihara
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Fukumori
authors.forename: Naruya
authors.initials: N
authors.lastname: Saitou
authors.forename: Feng
authors.initials: F
authors.lastname: Jin
authors.forename: Prasanta K
authors.initials: PK
authors.lastname: Chattopadhyay
authors.forename: Lotte
authors.initials: L
authors.lastname: Henke
authors.forename: Jürgen
authors.initials: J
authors.lastname: Henke
mesh_terms: D005202:Asia, Eastern / Q000208:ethnology; D005787:Gene Frequency / Q000235:genetics*; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: C553205:GALNT11 protein, human; D017350:N-Acetylgalactosaminyltransferases