Finding single nucleotide polymorphic microhaplotypes on the X chromosome and their application to kinship tests.

2021 Fiscal Year Final Research Report

• Project/Area Number: 19K19488
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 58040:Forensics medicine-related
• Research Institution: Nagoya City University
• Principal Investigator: FUKUTA Mamiko 名古屋市立大学, 医薬学総合研究院(医学), 助教 (60832201)
• Project Period (FY): 2019-04-01 – 2022-03-31
• Keywords: DNA多型 / マイクロハプロタイプ / 血縁鑑定 / 個人識別 / X染色体

Outline of Final Research Achievements

Microhaplotypes, which are haplotypes of several single nucleotide variants arranged in a 200 bp range, have become a focus of attention as genetic markers for individual identification and kinship test. In this study, we investigated the X chromosome, which has not been reported yet, and established 10 new loci with high polymorphism. We also collected Japanese population data (437 males and 236 females) and conducted a population genetic analysis. Furthermore, a simulation study was performed for the kinship test of full-sister by the number of shared alleles using the population data. It showed that the X chromosomal microhaplotypes were useful in the sibship test in females without their parents.

Free Research Field

法医学

Academic Significance and Societal Importance of the Research Achievements

法医学において血縁鑑定に用いるマーカーの新規開拓は，（１）既存の問題点の解決，（２）解析技術の進歩に対応するため，の２点において必要不可欠であり，本研究もその一端を担うものである。マイクロハプロタイプは既存の問題点である「反復配列（STR）のスタターと変異」，「一塩基多型（SNV）の多型性の低さ」を補う利点を持つことが示された。さらに近年多方面で活用されてきている次世代シーケンサーを利用した法医遺伝学的解析の一方法として，有用である点および新たな問題点を指摘した。