Study on mitochondrial heteroplasmy in related and unrelated individuals

相关和无关个体线粒体异质性研究

• 批准号: 16590537
• 负责人: FUKUSHIMA Hirofumi
• 金额: $ 1.98万
• 依托单位: Shinshu University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2004
• 资助国家: 日本
• 起止时间: 2004 至 2005
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-16590537/
• 关键词: PCR; subtyping; heteroplasmy; polymorphism; D loop; hair shafts; sequence; variants

The two hypervariable region of mitochondrial DNA are becoming more commonly used in forensic applications to differentiate individuals in a population. This analysis is particularly useful in cases involving evidence such as hair shafts and skeletal remains and in maternity testing.Heteroplasmy is the condition where two or more mitochondrial haplotypes, differing by sequence or length, are present in the same individual. The hypervariable region 1 and region 2 of the mitochondrial DNA control region were sequenced in blood and hair shafts obtained from unrelated individuals and mother-offspring pairs. Differences of heteroplasmy within the same individual were found in individuals and mother-offspring pairs. Differences of heteroplasmy within the same individual were found in 10 individuals, and all of these differences were observed in hair shaft samples.Direct sequencing of mitochondrial DNA control region HV1 and HV2 were performed on hair shafts of these two remains of Edo era. We analyzed polymorphic sites in coding region to know geographic origin or race. Two samples have 10400 mutation and it suggests the samples are modern Japanese type M.

线粒体DNA的两个高变量区域正越来越常用于法医应用中，以区分人群中的个体。在涉及诸如头发轴和骨骼残留和产妇测试之类的证据的情况下，该分析特别有用。新质质是在同一个体中存在两个或多个线粒体单倍型（按顺序或长度不同）的情况。线粒体DNA控制区域的高变量区域1和区域2在从无关的个体和母源对获得的血液和发轴中进行了测序。在个体和母源对中发现了同一个体内的异质的差异。在10个个体中发现了同一个体内的异质的差异，并且在脱发样品中观察到了所有这些差异。线粒体DNA控制区HV1和HV2的直接测序是在Edo ERA的这两个残留物的头发轴上进行的。我们分析了编码区域中的多态性位点，以了解地理起源或种族。两个样品具有10400个突变，这表明样品是现代日本类型。

项目成果

Personal Identification of Femurs with Length Disparity Recovered from Separate Locations.

从不同地点恢复的长度不一致的股骨的个人识别。

• 发表时间: 2005
• 期刊: Res Pract Forens Med 48
• 作者: H.Asamura;et al.
• 通讯作者: et al.

Allele frequencies of the six miniSTR loci in a population from Japan

日本人群中六个 miniSTR 位点的等位基因频率

• 发表时间: 2005
• 期刊: Int J Legal Med (In press)
• 作者: H.Asamura;et al.
• 通讯作者: et al.

長野県七五三掛遺跡出土人骨の頭蓋骨および下顎骨のミトコンドリアDNA解析

对长野县七五三挂遗址出土的人类头骨和下颌骨进行线粒体 DNA 分析

• 发表时间: 2004
• 期刊: DNA多型 12
• 作者: 浅村 英樹;他
• 通讯作者: 他

Simultaneous PCR of eight loci for very short Y-STR fragment size.

对非常短的 Y-STR 片段大小进行八个位点的同时 PCR。

• 发表时间: 2004
• 期刊: Progress in Forensic Genetics (Doutremepuich C, Morling N, ediors.) 10
• 作者: Tsukada K;Takayanagi K;Asamura H;Ota M;Kobayashi K;Fukushima H
• 通讯作者: Fukushima H

成分献血者に見られたHLA-B座モザイクと考えられる症例の解析.

对在成分献血者中观察到的被认为是 HLA-B 位点嵌合现象的病例进行分析。

• 发表时间: 2005
• 期刊: 日本輸血学会誌 51(5)
• 作者: 斉藤 敏;他
• 通讯作者: 他