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Analysis of hypervariable minisatellites and their flanking sequences towards application to forensics polymorphic markers

分析高变小卫星及其侧翼序列以应用于法医多态性标记

基本信息

批准号：
16390193
负责人：
TAMAKI Keiji
金额：
$ 8.32万
依托单位：
Kyoto University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (B)
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/grant/KAKENHI-PROJECT-16390193/
关键词：
minisatellite DNA polymorphisms CEB1 MS32 human genetics

项目摘要

Some minisatellite loci show very high levels of allele length variability. Most minisatellite loci consist of heterogeneous arrays of two or more subtly different repeat unit types (minisatellite variant repeats). Interspersion patterns can be determined by MVR mapping. We analysed the properties of a hypervariable minisatellite CEB1 (D2S90) in the Japanese population. The length heterozygosity is observed at 85.0% and the average length of the alleles is 69 repeats. A new single nucleotide polymorphism (SNP) was found in the flanking the minisatellite. Internal MVR structure was different between alleles and new base substitutions / deletions were found within repeats, which indicates CEB1 is also one of the most hypervariable minisatellite loci in Japanese. Minisatellite MS32 (D1S8) is also one of the minisatellites that shows vast diversity by MVR-PCR. Almost all alleles in several ethnic populations surveyed were found to be different. However, distinct alleles can show significan … More t similarities in repeat organization. However, up until now the existing Asian database has consisted almost entirely of Japanese alleles. In order to explore the similarities between Japanese and other Asian alleles, we have started MS32 allele mapping of DNA samples from Thais. By using allele-specific primers in MVR-PCR of individuals heterozygous for a SNP, 120 alleles can be mapped by the allele-specific MVR-PCR of the SNP. In 106 mapped Thai alleles, there are only 2 pairs of alleles are indistinguishable, and the remaining 102 alleles are unique. Under the infinite allele model and assuming selective neutrality, these data give an estimated theta. value of 2710 for the Thai. This estimate of diversity also suggests a heterozygosity of 99.96%. Allele codes were compared with each other by heuristic dot matrix analysis. MS32 Allele code database consisting 1072 alleles of various ethnic populatioins was also used. Within Thai aleles, 41 showed significant inter-allelic similarities, corresponding to 39% of all mapped alleles. Compared with world alleles, 57 were confirmed their similarities are authentic corresponding to 54% of all mapped alleles. Among the related Thai alleles, 64% of alleles show significant similarities to Japanese alleles and 26% to Caucasian. No Tahi alleles are related to African alleles. Therefore, Thai alleles are largely Asian population-specific, although the tendency does not seem to be as high as in Japanese. MVR allele analysis at MS32 can act as a tool not only for individual identification but also for ethnic background providing useful lineage markers for exploring recent events in human population history. Less

一些小卫星位点显示出非常高水平的等位基因长度变异性。大多数小卫星基因座由两个或更多个细微不同的重复单元类型（小卫星变异重复）的异质阵列组成。可以通过MVR映射来确定散布模式。我们分析了一个高变小卫星CEB 1（D2 S90）在日本人口的属性。长度杂合性为85.0%，等位基因平均长度为69个重复。在小卫星侧翼发现了一个新的单核苷酸多态性（SNP）。等位基因间的MVR内部结构不同，重复序列中发现了新的碱基替换/缺失，这表明CEB 1也是日本人最高变的小卫星位点之一。小卫星MS 32（D1 S8）也是通过MVR-PCR显示出巨大多样性的小卫星之一。几乎所有的等位基因在几个民族的调查被发现是不同的。然而，不同的等位基因可以显示出意义， ...更多信息测试重复组织中的相似性。然而，到目前为止，现有的亚洲数据库几乎完全由日本等位基因组成。为了探索日本人和其他亚洲人等位基因之间的相似性，我们已经开始对来自泰国人的DNA样本进行MS 32等位基因作图。通过在SNP杂合个体的MVR-PCR中使用等位基因特异性引物，可以通过SNP的等位基因特异性MVR-PCR定位120个等位基因。在106个泰国等位基因中，只有2对等位基因是不可区分的，其余102个等位基因是独特的。在无限等位基因模型下，假设选择性中性，这些数据给出了估计的θ。泰国人的价值是2710。这种多样性的估计也表明杂合性为99.96%。用启发式点阵分析法比较等位基因编码。利用MS-32等位基因编码数据库，对1072个不同民族群体的等位基因进行编码。在泰国的等位基因，41个表现出显着的等位基因间的相似性，对应于所有映射的等位基因的39%。与世界上的等位基因进行比较，确认了57个等位基因的相似性是真实的，占所有定位等位基因的54%。在相关的泰国等位基因中，64%的等位基因与日本人的等位基因有显著相似性，26%与高加索人的等位基因有显著相似性。没有塔希等位基因与非洲等位基因相关。因此，泰国等位基因在很大程度上是亚洲人群特异性的，尽管这种趋势似乎没有日本人那么高。MVR等位基因分析在MS 32可以作为一种工具，不仅为个人识别，但也为种族背景提供有用的谱系标记，探索人类历史上最近的事件。少