中国汉族人群DYF155S1位点等位基因结构研究

Study of Allele Structure of MYF155S1 Locus in Chinese Han Population

[目的]为建立一种简便、实用的 DYF155S1位点多态性分析技术提供依据。[方法]采用扩增片段长度多态性(Amp-FLP)方法,调查中国汉族人群155个无关男性个体DYF155S1位点长度的变异情况。PCR扩增产物用非变性聚丙烯酰胺凝胶电泳,银染显示条带。用循环测序法对该位点的10个等位基因进行正向和反向序列分析。[结果]以基因组 DNA为模板,用一对引物可同时扩增出 DYF155S1和DYF155S2 2个位点的等位基因。DYF155S1位点表现出有长度多态性,这些等位基因约 1500～2 500 bp。DYF155S2位点表现出有或缺失的二态现象,缺失率约为7.1％。发现有4种变异的核心序列,其中3种与文献报道一致,被命名为1型、3型和4型,另一种为新发现的变异核心序列,暂命名为7型。10个等位基因具有相同的模块结构,在5’端表现为3型-1型-3型排列,在3’端则表现为 4型-3型排列。[结论]中国汉族人群DYF155S1位点 5’端序列较3’端的多态性高。

[Objective] To establish a simple and useful method for polymorphism analysis of DYF155S1 locus(NSYl locus). [Methods] The allele length variation of DYF155S1 locus from 155 unrelated males in Chinese Han population was studied by using amplified fragment length polymorphism (Amp-FLP) method. PCR products were detected by using 6% polyacrylmide gel electrophore-sis followed by silver staining. Ten alleles at DYF155S1 locus were sequenced from 5' and 3'ends by Cycle Sequencing. [Results] DYF155S1 and DYF155S2 loci could be amplified simultaneously from genomic DNA by using a couple of primers. The alleles at DYF155S1 locus showed length polymorphism and their sizes ranged from 1500 to 2 500 bp. While the alleles at DYF155S2 locus showed yes/ no deletion polymorphism and the rate of deletion was 7.1%. Four types of variant repeats were identified, including three types, designated Type 1, 3 and 4 that reported before whereas one type, named Type 7, was a new found. Ten alleles sequenced had the same modular structure, starting with a repeat block of Type 3 followed by a block of Type 1 before the central block of Type 3 at 5'end, and starting with a repeat block of Type 4 followed by the central repeat block of Type 3 at 3'end. [Conclusion] The polymorphism of DYF155S1 locus at 5'end in Chinese Han population is higher than at 3' end. Our results provide the basis for analyzing the polymorphism of DYF155S1 locus.