Genotyping of the c.1423C>T (p.P475S) polymorphism in the ADAMTS13 gene by APLP and HRM assays: Northeastern Asian origin of the mutant

Mayumi Nakagawa; Aya Matsusue; Kazuo Umetsu; Morio Iino; Takaki Ishikawa; Isao Yuasa

doi:10.1016/j.legalmed.2016.04.010

Genotyping of the c.1423C>T (p.P475S) polymorphism in the ADAMTS13 gene by APLP and HRM assays: Northeastern Asian origin of the mutant

Leg Med (Tokyo). 2016 Jul:21:1-4. doi: 10.1016/j.legalmed.2016.04.010. Epub 2016 Apr 29.

Authors

Mayumi Nakagawa¹, Aya Matsusue², Kazuo Umetsu³, Morio Iino⁴, Takaki Ishikawa⁵, Isao Yuasa⁶

Affiliations

¹ Department of Pathobiological Science and Technology, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan.
² Department of Forensic Medicine, Faculty of Medicine, Fukuoka University, Fukuoka 814-0180, Japan.
³ Department of Forensic Medicine, Yamagata University School of Medicine, Yamagata 990-9985, Japan.
⁴ Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan.
⁵ Department of Legal Medicine, Osaka City University Medical School, Osaka 545-8585, Japan.
⁶ Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan. Electronic address: yuasai@med.tottori-u.ac.jp.

PMID: 27497325
DOI: 10.1016/j.legalmed.2016.04.010

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).

Keywords: ADAMTS13; Asian population; Geographical distribution; Single nucleotide polymorphism (SNP); p.P475S mutation.

MeSH terms

ADAMTS13 Protein / genetics*
Asia, Eastern
Asian People / genetics*
Ethnicity
Genotyping Techniques / methods*
Humans
Polymorphism, Genetic / genetics*
Polymorphism, Single Nucleotide

Substances

ADAMTS13 Protein
ADAMTS13 protein, human