Human Y-chromosome SNP characterization by multiplex amplified product-length polymorphism analysis
Human Y-chromosome SNP characterization by multiplex amplified product-length polymorphism analysis
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DOI：
10.1002/elps.201400020
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发表时间：
2014-09-01
期刊：
影响因子：
2.9
通讯作者：
Bailliet, Graciela
中科院分区：
文献类型：
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作者：
Jurado Medina, Laura Smeldy;Muzzio, Marina;Bailliet, Graciela
我们设计了等位基因特异性扩增方案来优化 Y 染色体 SNP 分型，这是定义父系谱系的系统发育状态不可避免的步骤。它可以通过扩增片段长度多态性 (AFLP) 在一次反应中同时高度特异性地定义多达 6 个突变，无需专用设备，其成本比基于单碱基引物延伸 (SNaPshot) 技术或 PCR-RFLP 系统的成本低得多，所需 DNA 低至 0.5 ng，并与低质量 DNA 的小片段特征兼容。通过指定识别每个 SNP 的衍生状态和祖先状态的两个引物，可以通过添加非互补核苷酸尾来根据大小进行区分，我们可以通过扩增片段范围在 60 至 158bp 之间。
We designed an allele-specific amplification protocol to optimize Y-chromosome SNP typing, which is an unavoidable step for defining the phylogenetic status of paternal lineages. It allows the simultaneous highly specific definition of up to six mutations in a single reaction by amplification fragment length polymorphism (AFLP) without the need of specialized equipment, at a considerably lower cost than that based on single-base primer extension (SNaPshot) technology or PCR-RFLP systems, requiring as little as 0.5 ng DNA and compatible with the small fragments characteristic of low-quality DNA. By designation of two primers recognizing the derived and ancestral state for each SNP, which can be differentiated by size by the addition of a noncomplementary nucleotide tail, we could define major Y clades E, F, K, R, Q, and subhaplogroups R1, R1a, R1b, R1b1b, R1b1c, J1, J2, G1, G2, I1, Q1a3, and Q1a3a1 through amplification fragments that ranged between 60 and 158bp.