JapanesePlex: a method for identification of being Japanese using Japanese-specific SNPs

JapanesePlex：一种使用日本特有的 SNP 来识别日本人的方法

• 批准号: 23590849
• 负责人: YUASA Isao
• 金额: $ 3.41万
• 依托单位: Tottori University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2011
• 资助国家: 日本
• 起止时间: 2011 至 2013
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-23590849/
• 关键词: 日本人; 特異遺伝子; 個人識別; PCR; DNA解析; 集団特異遺伝子; ＰＣＲ; ＤＮＡ解析

To find out Japanese-specific SNPs, a total of 875 DNA samples from Japanese in Tottori and Okinawa, Koreans, Mongolians, Hans, Tibetans, Germans and Africans were investigated. Sixty-seven (nearly) Japanese-specific SNPs were observed. Of them, 57 showed the highest frequencies in Okinawa, and 43 were also observed in Koreans at lower frequencies. DNA samples from Jomon remains in Hokkaido were investigated for three SNPs at the GALNT11, H19 and PLA2G12A genes, and showed higher frequencies in every SNP than those from Okinawa, suggesting that the SNPs observed at the highest frequencies in Okinawa were of Jomon lineage. For forensic practice, 50 SNPs with high frequency and no linkage disequilibrium were selected. A multiplex typing method based on single-based primer extension technology were established. This JapanesePlex method permitted the identification of being Japanese with high probability.

为了发现日本人特有的SNPs，对来自鸟取和冲绳的日本人、朝鲜人、蒙古人、汉族、藏族、德国人和非洲人的共计875个DNA样本进行了调查。观察到67个（几乎）日本特有的SNP。其中，57个在冲绳的频率最高，43个在韩国人中也观察到较低的频率。对来自北海道绳纹遗骨的DNA样本进行了GALNT 11、H19和PLA2 G12 A基因3个SNP的调查，结果显示，在每个SNP中的频率都高于来自冲绳的DNA样本，这表明在冲绳观察到的最高频率的SNP属于绳纹血统。为法医学应用，选择了50个频率高且无连锁不平衡的SNPs。建立了基于单碱基引物延伸技术的多重分型方法。这种日本人的识别方法允许以高概率识别日本人。

项目成果

Nonsynonymous single-nucleotide polymorphisms of the human apoptosis-related endonuclease-DNA fragmentation factor beta polypeptide, endonuclease G, and Flap endonuclease 1-genes show a low degree of genetic heterogeneity

人类凋亡相关内切核酸酶-DNA 片段因子 β 多肽、内切核酸酶 G 和 Flap 内切核酸酶 1 基因的非同义单核苷酸多态性显示出较低程度的遗传异质性

• DOI: 10.1089/dna.2011.1293
• 发表时间: 2012
• 期刊: DNA and Cell Biology
• 影响因子: 3.1
• 作者: Poudel-Tandukar K;Nanri A;Matsushita Y;Sasaki S;Ohta M;Sato M;Mizoue T;Soichiro Usui;新開省二;H.Takeshita
• 通讯作者: H.Takeshita

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation

• DOI: 10.1111/cge.12417
• 发表时间: 2015-05-01
• 期刊: CLINICAL GENETICS
• 影响因子: 3.5
• 作者: Kodera, H.;Ando, N.;Saitsu, H.
• 通讯作者: Saitsu, H.

補体I因子のイントロン7にみられるSTRについて (3) 東アジアにおける分布

关于补体I因子内含子7中发现的STR（3）东亚分布

• 发表时间: 2011
• 作者: 湯浅 勲;遠藤実;入澤淑人;他
• 通讯作者: 他

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.

• DOI: 10.1007/s10545-011-9311-y
• 发表时间: 2011-08
• 期刊: JOURNAL OF INHERITED METABOLIC DISEASE
• 影响因子: 4.2
• 作者: Guillard, Mailys;Wada, Yoshinao;Hansikova, Hana;Yuasa, Isao;Vesela, Katerina;Ondruskova, Nina;Kadoya, Machiko;Janssen, Alice;Van den Heuvel, Lambertus P. W. J.;Morava, Eva;Zeman, Jiri;Wevers, Ron A.;Lefeber, Dirk J.
• 通讯作者: Lefeber, Dirk J.

Global genetic analysis of all single nucleotide polymorphisms in exons of the human deoxyribonuclease I-like 3 gene and their effect on its catalytic activity

人脱氧核糖核酸酶I-like 3基因外显子所有单核苷酸多态性的整体遗传分析及其对其催化活性的影响

• DOI: 10.1002/elps.201100064
• 发表时间: 2011
• 期刊: Electrophoresis
• 影响因子: 2.9
• 作者: Ueki M;Fuiihara J;Takeshita H;Kimura-Kataoka K;Iida R;Yuasa I;Kato H;Yasuda T
• 通讯作者: Yasuda T