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马来西亚人群的遗传结构分析:马来西亚半岛马来人中的祖先信息标记单核苷酸多态性

Analysis of the genetic structure of the Malay population: Ancestry-informative marker SNPs in the Malay of Peninsular Malaysia.

作者信息

Yahya Padillah, Sulong Sarina, Harun Azian, Wan Isa Hatin, Ab Rajab Nur-Shafawati, Wangkumhang Pongsakorn, Wilantho Alisa, Ngamphiw Chumpol, Tongsima Sissades, Zilfalil Bin Alwi

机构信息

Department of Paediatric, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, 16150 Kelantan, Malaysia.

Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, 16150 Kelantan, Malaysia.

出版信息

Forensic Sci Int Genet. 2017 Sep;30:152-159. doi: 10.1016/j.fsigen.2017.07.005. Epub 2017 Jul 14.

Abstract

Malay, the main ethnic group in Peninsular Malaysia, is represented by various sub-ethnic groups such as Melayu Banjar, Melayu Bugis, Melayu Champa, Melayu Java, Melayu Kedah Melayu Kelantan, Melayu Minang and Melayu Patani. Using data retrieved from the MyHVP (Malaysian Human Variome Project) database, a total of 135 individuals from these sub-ethnic groups were profiled using the Affymetrix GeneChip Mapping Xba 50-K single nucleotide polymorphism (SNP) array to identify SNPs that were ancestry-informative markers (AIMs) for Malays of Peninsular Malaysia. Prior to selecting the AIMs, the genetic structure of Malays was explored with reference to 11 other populations obtained from the Pan-Asian SNP Consortium database using principal component analysis (PCA) and ADMIXTURE. Iterative pruning principal component analysis (ipPCA) was further used to identify sub-groups of Malays. Subsequently, we constructed an AIMs panel for Malays using the informativeness for assignment (I) of genetic markers, and the K-nearest neighbor classifier (KNN) was used to teach the classification models. A model of 250 SNPs ranked by I, correctly classified Malay individuals with an accuracy of up to 90%. The identified panel of SNPs could be utilized as a panel of AIMs to ascertain the specific ancestry of Malays, which may be useful in disease association studies, biomedical research or forensic investigation purposes.

摘要

马来族是马来西亚半岛的主要族群,由多个亚族群代表,如班贾尔马来人、武吉斯马来人、占碑马来人、爪哇马来人、吉打马来人、吉兰丹马来人、米南加保马来人和北大年马来人。利用从马来西亚人类变异组计划(MyHVP)数据库检索到的数据,使用Affymetrix GeneChip Mapping Xba 50-K单核苷酸多态性(SNP)芯片对来自这些亚族群的135名个体进行了分析,以确定作为马来西亚半岛马来人祖先信息标记(AIM)的SNP。在选择AIM之前,参照从泛亚SNP联盟数据库获得的其他11个群体,使用主成分分析(PCA)和ADMIXTURE探索了马来人的遗传结构。进一步使用迭代修剪主成分分析(ipPCA)来识别马来人的亚群体。随后,我们利用遗传标记的分配信息性(I)构建了一个马来人的AIM面板,并使用K近邻分类器(KNN)训练分类模型。一个由按I排序的250个SNP组成的模型,对马来个体的正确分类准确率高达90%。所确定的SNP面板可作为一个AIM面板,用于确定马来人的特定祖先,这可能在疾病关联研究、生物医学研究或法医调查中有用。

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