A Japanese-specific allele in the GALNT11 gene.
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.
Yuasa
Isao
I
Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan. yuasai@med.tottori-u.ac.jp
Umetsu
Kazuo
K
Matsusue
Aya
A
Nishimukai
Hiroaki
H
Harihara
Shinji
S
Fukumori
Yasuo
Y
Saitou
Naruya
N
Jin
Feng
F
Chattopadhyay
Prasanta K
PK
Henke
Lotte
L
Henke
Jürgen
J
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*
C553205:GALNT11 protein, human; D017350:N-Acetylgalactosaminyltransferases