Journal Article10.1007/S00414-009-0369-0
A hypervariable STR polymorphism in the complement factor I (CFI) gene: Asian-specific alleles
Isao Yuasa,Yoshito Irizawa,Hiroaki Nishimukai,Yasuo Fukumori,Kazuo Umetsu,Nori Nakayashiki,Naruya Saitou,Lotte Henke,Jürgen Henke +8 more
TL;DR: A short tandem repeat (STR) polymorphism in intron 7 of the human complement factor I (CFI) gene was studied in 637 DNA samples obtained from African, German, Thai, and Japanese populations and German and Japanese families and would be a useful supplementary marker for forensic individualization.
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Abstract: In this study, a short tandem repeat (STR) polymorphism in intron 7 of the human complement factor I (CFI) gene was studied in 637 DNA samples obtained from African, German, Thai, and Japanese populations and German and Japanese families. A total of 41 alleles were observed and classified into two groups, L and H, based on size differences. Group H, which consisted of 16 alleles, was observed only in Thai and Japanese populations at frequencies of 0.162 and 0.116, respectively, and was strongly associated with c.1217A in exon 11 (CFI*Ah). The heterozygosity values ranged from 0.89 in German to 0.93 in Thai populations. This STR would be a useful supplementary marker for forensic individualization.
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Citations
Japaneseplex: A forensic SNP assay for identification of Japanese people using Japanese-specific alleles
Isao Yuasa,Atsushi Akane,Toshimichi Yamamoto,Aya Matsusue,Minoru Endoh,Mayumi Nakagawa,Kazuo Umetsu,Takaki Ishikawa,Morio Iino +8 more
TL;DR: A 60-locus SNP assay designed for the differentiation of Japanese people from other East Asians using entirely and nearly Japanese-specific alleles was developed, which was named Japaneseplex.
16
The global distribution of the p.R1193Q polymorphism in the SCN5A gene
Aya Matsusue,Isao Yuasa,Kazuo Umetsu,Nori Nakayashiki,Koji Dewa,Hiroaki Nishimukai,Masayuki Kashiwagi,Kenji Hara,Brian Waters,Mio Takayama,Natsuki Ikematsu,Shin-ichi Kubo +11 more
TL;DR: Investigation of the frequency of the p.R1193Q substitution in more than 4000 genomic DNA samples from 34 Asian, European, and African populations using TaqMan and/or APLP (amplified product length polymorphism) assays demonstrated that thep.R 1193 Q substitution is characteristic of Asian populations.
8
A Japanese-specific allele in the GALNT11 gene
Isao Yuasa,Kazuo Umetsu,Aya Matsusue,Hiroaki Nishimukai,Shinji Harihara,Yasuo Fukumori,Naruya Saitou,Feng Jin,Prasanta K. Chattopadhyay,Lotte Henke,Juergen Henke +10 more
TL;DR: Five single nucleotide polymorphisms 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 to find useful markers for forensic individualization, in particular, as ancestry-informative markers.
3
A hypervariable STR polymorphism in the CFI gene: Southern origin of East Asian-specific group H alleles
Isao Yuasa,Feng Jin,Shinji Harihara,Aya Matsusue,Junko Fujihara,Haruo Takeshita,Atsushi Akane,Kazuo Umetsu,Naruya Saitou,Prasanta K. Chattopadhyay +9 more
TL;DR: The expansion of group H alleles provides evidence that southern China and Southeast Asia are a hotspot of Asian diversity and a genetic reservoir of Asians after they entered East Asia.
3
A hypervariable STR polymorphism in the CFI gene: mutation rate and no linkage disequilibrium with FGA.
TL;DR: A hypervariable short tandem repeat (STR) polymorphism in intron 7 of the human complement factor I gene (CFI) was investigated to estimate the mutation rate in Japanese samples and to test linkage disequilibrium with an STR in the fibrinogen alpha chain gene (FGA).
2
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