Development of new Japanese-specific DNA markers (SNP) and application to individualization

新的日本特有 DNA 标记 (SNP) 的开发及其在个体化中的应用

• 批准号: 13670423
• 负责人: YUASA Isao
• 金额: $ 2.24万
• 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: 2001
• 资助国家: 日本
• 起止时间: 2001 至 2003
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-13670423/
• 关键词: Japanese; DNA polymorphism; SNP; Individualization; nucleotide sequence; mtDNA; Y chromosome

To make it possible to identify the ethnic origin of cadavers and forensic materials, we have investigated mtDNA and Y chromosome haplogroups in DNA samples from 700-2000 Japanese, Koreans, Chinese Hans, Mongolians and Germans. When more than 20 SNPs in the coding regions of mtDNA were typed simultaneously by APLP method, haplogroup B2 in mtDNA was found in only Japanese and Koreans. However, its frequency was markedly higher in Japanese than in Koreans. Typing of 29 binary polymorphisms in Y chromosome by RFLP permitted us to classify 867 samples from various populations into 24 haplogroups. Though the heterozygosity values were similar, the distribution of haplogroups and the mean number of pairwise differences among haplogroups were very different. A C-to-T transition found in the SRY gene was unique and observed only in Japanese and Koreans. Haplogroups 4 and 5 of YAP lineage and haplogroup 8 of RPS4Y lineage were identified in Japanese at higher frequencies than in Koreans. When these mtDNA and Y chromosome haplogroups are observed, it is strongly suggested that the cadavers and forensic materials are originated from Japanese.

为了确定尸体和法医材料的种族起源，我们研究了来自700-2000名日本，韩国人，中国汉斯，蒙古人和德国人的DNA样品中的mtDNA和Y染色体单倍群。当通过APLP方法同时键入mtDNA的编码区域中有20多个SNP时，仅在日本和韩国人中发现了mtDNA中的单倍群B2。但是，日本人的频率明显高于韩国人。 RFLP在Y染色体中的29个二元多态性的键入使我们可以将来自各个种群的867个样本分类为24个单倍群。尽管杂合性值相似，但单倍群的分布和单倍群之间的成对差异的平均数量却大不相同。在SRY基因中发现的C-T-T转型是独一无二的，仅在日本和韩国人中观察到。 RPS4Y谱系的YAP谱系和单倍群的单倍群的单倍群4和5在日语中比韩国人更高的频率鉴定出来。当观察到这些mtDNA和Y染色体单倍体时，强烈建议尸体和法医材料起源于日语。

项目成果

Yuasa I: "Molecular characterization of four-Alpha-r antitrypsin variant alleles found in a Japanese population"Legal Medicine. 3(4). 213-219 (2001)

Yuasa I：“在日本人群中发现的四-Alpha-r抗胰蛋白酶变异等位基因的分子特征”法律医学。

E.Naito, K.Umetsu, I.Yuasa, K.Dewa, H.Sumi, H.Yamanouchi: "A novel dimorphism in the human SRY gene : usefulness in human migration study."International Journal of Legal Medicine. 114(4/5). 274-277 (2001)

E.Naito、K.Umetsu、I.Yuasa、K.Dewa、H.Sumi、H.Yamanouchi：“人类 SRY 基因中的一种新型二态性：在人类迁徙研究中的用途。”《国际法律医学杂志》。

I.Yuasa, K.Umetsu, S.Tsuchida, H.Nakamura, M.Endoh, M.Nakagawa, Y.Irizawa: "Molecular analysis of the human esterase D gene ESD*Q0_<yonago> responsible for incompatibility in a Japanese paternity case."Forensic Science International. 126(3). 245-251 (2002

I.Yuasa、K.Umetsu、S.Tsuchida、H.Nakamura、M.Endoh、M.Nakakawa、Y.Irizawa：“对导致日本亲子不亲和的人酯酶 D 基因 ESD*Q0_<yonago> 进行分子分析

Nakagawa M, Yuasa I, Irizawa Y, Umetsu K: "The human complement component C1r gene : the exon-intron structure and the molecular basis of allelic diversity."Annals of Human Genetics. 67(3). 207-215 (2003)

Nakakawa M、Yuasa I、Irizawa Y、Umetsu K：“人类补体成分 C1r 基因：外显子-内含子结构和等位基因多样性的分子基础。”人类遗传学年鉴。

Yuasa, I.: "Molecular analysis of the human esterase D gene ESD^*QO yonago responsible for incompatibility in a Japanese paternity case"Forensic Science International. 126(3). 248-251 (2002)

Yuasa, I.：“对日本亲子鉴定案件中导致不相容的人酯酶 D 基因 ESD^*QO yonago 的分子分析”国际法医科学。