在过去的几十年里,随着大规模人类基因研究的兴起,我们开始了解生物地理信息如何通过遗传变异来反映。大规模平行测序的技术进步为一些新的法医标记如微单倍型(BIM)提供了优势。在本研究中,我们根据1000基因组计划(1KG)选择并表征了35种新颖的生物地理信息BIM。所有基因座的长度都小于100bp,高有效等位基因数(Ae)从1.875到3.980,平均2.798,高信息量(In)从0.701到0.865,平均0.748,这表明35个BIM具有很大的鉴别力。使用这35个BIMs,来自1KG的个体可以成功分化为由1KG定义的五个超群(AFR,AMR,EAS,EUR,和SAS)。我们还包括来自西蒙斯基因组多样性项目(SGDP)的一些个人进行进一步验证。因此,除了1KG数据集中不存在的超种群外,大多数个体都可以准确预测。总之,目前新的35BIM可能是生物地理祖先推断的有用工具。
During the past decades, with the blooming of large-scale human genetic studies, we are beginning to understand how bio-geographical information could be reflected by genetic variations. And the technological advance in massively parallel sequencing gives advantages to some novel forensic markers such as microhaplotype (BIM). In the present study, we selected and characterized 35 novel bio-geographical informative BIMs based on the 1000 Genomes Project (1KG). All loci had short lengths less than 100 bp, high effective allele numbers (Ae) from 1.875 to 3.980 with an average of 2.798, and high informativeness (In) value from 0.701 to 0.865 with an average of 0.748, which indicates the 35 BIMs possessed great discriminating power. Using these 35 BIMs, the individuals from 1KG could be successfully differentiated into five supergroups defined by 1KG (AFR, AMR, EAS, EUR, and SAS). We also included some individuals from the Simons Genome Diversity Project (SGDP) for further validation. As a result, most individuals could be accurately predicted except for those from super-populations that do not exist in 1KG dataset. In conclusion, the present novel 35 BIMs could be a useful tool for bio-geographical ancestry inference.