Establishment to differentiate an estimateing method using genome-wide repeat sequences between Japanese and human populations near Japan

2022 Fiscal Year Final Research Report

• Project/Area Number: 17H04148
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Legal medicine
• Research Institution: Nagoya University
• Principal Investigator: Yamamoto Toshimichi 名古屋大学, 医学系研究科, 准教授 (50260592)
• Project Period (FY): 2017-04-01 – 2022-03-31
• Keywords: 反復配列 / Alu配列 / Short tandem repeats / 日本人 / 韓族 / 漢中国人 / 識別法

Outline of Final Research Achievements

Regarding Alu elements, a novel method to apply to search unknown them in human genome was established. However, it was proved difficult to make genome DNA appropriate size of fragmentation. Therefore, using the data of the Alu element positions obtained from whole genome sequence data in about 400 Japanese and 90 Korean, those with different between both populations and with more than 20 % of the frequencies in each population were extracted and evaluated. As a result, it was suggested that there were not so much Alu-Y subtypes as more descendant.
Alternatively, regarding STRs, we performed some population genetical analyses using the genotype data for 261 autosomal STRs from each 32 Japanese and Han-Chinese. Then, it was suggested it would be possible to differentiate statistically between both populations if we could select each a locus, which has high personal discriminating power and power of the differentiation between both populations. on each arm of each autosomal chromosome.

Free Research Field

法医学

Academic Significance and Societal Importance of the Research Achievements

反復配列を利用した近縁ヒト集団の遺伝的区別（生物地理学的祖先系の推定）を目的として行った。その結果、日本人と韓国人をAlu配列により区別することは難しいことが判明したことの学術的意義は高い。
一方、日本人と漢中国人における261座位のSTRsの遺伝型データの統計・集団遺伝学的解析では、ほぼ常染色体の短腕・長腕に各1座位に相当する計44座位で、個人及び集団間でも識別力のあるSTRs座位により、その識別は可能であることが示唆されたことの学術的意義は高い。また、そのような約45座位による、２つの判定システムを構築すれば、その祖先推定の可能性が得られたことの社会的意義は非常に大きいと考えられる。