title: Genotyping of the c.1423C>T (p.P475S) polymorphism in the ADAMTS13 gene by APLP and HRM assays: Northeastern Asian origin of the mutant.
abstract: ADAMTS13 is a von Willebrand factor-cleaving protease. The mutant types of p.P475S (c.1423C>T) polymorphism in ADAMTS13 have a reduced activity in comparison with the wild type. In the present study, we investigated the frequency of the C-to-T substitution in 2584 genomic DNA samples from 25 Asian, European, and African populations using APLP (amplified product length polymorphism) and/or HRM (high-resolution melting) assays. Allele T (ADAMTS13(∗)T) was detected only in Asian populations and its frequency was observed to decrease gradually from north to south in 24 East Asian populations. Almost all ADAMTS13(∗)T were associated with ABO(∗)O. These results suggested that ADAMTS13(∗)T had occurred on a chromosome with ABO(∗)O in a northern part of East Asia. This SNP is useful as an ancestry-informative marker, and the present genotyping techniques are applicable to the investigation of an association between this SNP and aortic dissection (Kobayashi et al., 2012).
authors: Department of Pathobiological Science and Technology, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan.
authors: Mayumi
authors: M
authors: Nakagawa
authors: Department of Forensic Medicine, Faculty of Medicine, Fukuoka University, Fukuoka 814-0180, Japan.
authors: Aya
authors: A
authors: Matsusue
authors: Department of Forensic Medicine, Yamagata University School of Medicine, Yamagata 990-9985, Japan.
authors: Kazuo
authors: K
authors: Umetsu
authors: Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan.
authors: Morio
authors: M
authors: Iino
authors: Department of Legal Medicine, Osaka City University Medical School, Osaka 545-8585, Japan.
authors: Takaki
authors: T
authors: Ishikawa
authors: Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan. Electronic address: yuasai@med.tottori-u.ac.jp.
authors: Isao
authors: I
authors: Yuasa
mesh_terms: D000071120:ADAMTS13 Protein / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D005006:Ethnicity; D005202:Asia, Eastern; D060005:Genotyping Techniques / Q000379:methods*; D006801:Humans; D011110:Polymorphism, Genetic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human
keywords: ADAMTS13; Asian population; Geographical distribution; Single nucleotide polymorphism (SNP); p.P475S mutation