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Novel Y-chromosome Short Tandem Repeat Variants Detected Through the Use of Massively Parallel Sequencing

查看全文 作　　者：David [1]H.Warshauer;Jennifer [1]D.Churchill;Nicole [1]Novroski;Jonathan [1]L.King;Bruce [1,2]Budowle 高影响力作者 机构地区：[1]Institute of Applied Genetics, Department of Molecular and Medical Genetics, University of North Texas Health Science Center;[2]Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz University高影响力机构 出　　处：《Genomics, Proteomics & Bioinformatics》索引2015年第13卷第4期,共8页高影响力期刊 基　　金：supported in part by the grant‘‘Development of Reference Sample DNA Profiling for Databases Using Next Generation Sequencing Technologies'(Award No.2012-DNBXK033)awarded to BB by the National Institute of Justice,Office of Justice Programs,U.S 摘　　要：Massively parallel sequencing(MPS) technology is capable of determining the sizes of short tandem repeat(STR) alleles as well as their individual nucleotide sequences. Thus, single nucleotide polymorphisms(SNPs) within the repeat regions of STRs and variations in the pattern of repeat units in a given repeat motif can be used to differentiate alleles of the same length. In this study, MPS was used to sequence 28 forensically-relevant Y-chromosome STRs in a set of 41 DNA samples from the 3 major U.S. population groups(African Americans, Caucasians, and Hispanics).The resulting sequence data, which were analyzed with STRait Razor v2.0, revealed 37 unique allele sequence variants that have not been previously reported. Of these, 19 sequences were variations of documented sequences resulting from the presence of intra-repeat SNPs or alternative repeat unit patterns. Despite a limited sampling, two of the most frequently-observed variants were found only in African American samples. The remaining 18 variants represented allele sequences for which there were no published data with which to compare. These findings illustrate the great potential of MPS with regard to increasing the resolving power of STR typing and emphasize the need for sample population characterization of STR alleles. 关 键 词：基因序列变异 短串联重复序列 Y染色体 测序 单核苷酸多态性 检测 并行 NA样本
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