Identifying novel microhaplotypes for ancestry inference
Identifying novel microhaplotypes for ancestry inference
复制标题
识别用于祖先推断的新微单倍型。
DOI：
10.1007/s00414-018-1881-x
复制
发表时间：
2019-07-01
影响因子：
2.1
通讯作者：
Chen, Feng
中科院分区：
文献类型：
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作者：
Chen, Peng;Zhu, Wenjia;Chen, Feng
在法医学领域，利用DNA确定个体的血统正变得越来越重要。基德等人（《国际法医学遗传学杂志》2014年第12卷第215 - 224页）首次对单倍型进行了鉴定和分类，这些单倍型被称为微单倍型（1 - 10千碱基跨度）和微卫星单倍型（200bp），它们在法医分析中具有潜在用途。在本研究中，我们根据罗森伯格等人（《美国人类遗传学杂志》2003年第73卷第6期第1402 - 1422页）的方法计算信息量（I - n），选择了10个能提供血统信息的短微卫星单倍型。我们纳入了来自1000基因组计划数据库第3阶段26个群体的共2504名个体。在研究的微卫星单倍型中，其中8个由3个单核苷酸多态性（SNP）组成，而2个微卫星单倍型由4个SNP组成。10个微卫星单倍型的大小（分子范围）在5到48bp之间，平均为31.4bp。杂合度值在0.2235到0.8958之间，平均为0.6593。平均鉴别力（PD）值为0.7944，范围在0.3786到0.9242之间。对该数据集的分析清晰地将来自非洲、东亚、南亚和欧洲生物地理区域的人群区分开来。然而，来自美洲血统的个体没有很好地被区分开。总之，我们的研究结果揭示了将微卫星单倍型用作血统信息标记的重要性。本研究小组的成果可在法医应用中提供一种有效的补充工具。
The use of DNA to determine the ancestry of an individual is becoming more and more important in the areas of forensics. Kidd et al. (Forensic Sci Int Genet 12:215-224, 2014) have been the first to identify and catalog haplotypes, termed as minihaplotypes (1-10-kilobase spans) and microhaplotypes (200bp), with potential use in forensic analysis. In the present study, we selected 10 short ancestry informative microhaplotypes by calculating the informativeness (I-n) according to Rosenberg et al. (Am J Hum Genet 73(6):1402-1422, 2003). In total, 2504 individuals from 26 populations in 1000 Genomes Project database Phase 3 were enrolled. Among the studied microhaplotypes, eight of them are comprised of 3 SNPs while two microhaplotypes are made up of 4 SNPs. The size (molecular extent) range of 10 microhaplotypes is 5 to 48bp with an average of 31.4bp. The heterozygosity value ranges from 0.2235 to 0.8958 with an average of 0.6593. The average power of discrimination (PD) values is 0.7944 and ranges from 0.3786 to 0.9242. Analyses of this dataset provided clear differentiation of the populations from the Africa, East Asia, South Asia, and Europe biogeographic regions. However, individuals from American ancestry were not well separated. To conclude, our results revealed the significance of using microhaplotypes as an ancestry informative marker. The present panel could offer a valid complementary tool in forensic applications.