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首页> 外文期刊>Biochemical Genetics >High-Throughput Multiplex Single-Nucleotide Polymorphism (SNP) Analysis in Genes Involved in Methionine Metabolism
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High-Throughput Multiplex Single-Nucleotide Polymorphism (SNP) Analysis in Genes Involved in Methionine Metabolism

机译：高通量多重单核苷酸多态性（SNP）分析涉及蛋氨酸代谢的基因。

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摘要

Hyperhomocysteinemia is a well-known independent marker factor for atherothrombotic diseases and may result from acquired and genetic influences. Several polymorphisms are suspected to be associated with hyperhomocysteinemia, but data are limited and inconsistent. High-throughput genotyping technologies, such as GenomeLab SNPStream, are now available. Moreover, an appropriate selection of SNPs to be analyzed could represent a strong resource to define the role of genetic risk factors. We developed a multiplex PCR-oligonucleotide extension approach by GenomeLab platform. We selected 72 SNPs based on their putative function and frequency in the candidate genes AHCY, BHMT, BHMT2, CBS, ENOSF1, FOLH1, MTHFD1, MTHFR, MTR, MTRR, NNMT, PON1, PON2, SLC19A1, SHMT1, TCN2, and TYMS. We were able to analyze 57 of the SNPs (79%). For MTHFR C677T and A1298C and MTR A2756G SNPs, we compared data obtained with an electronic microchip technology and found 99.2% concordance. We also performed a haplotype analysis. This approach could represent a useful tool to investigate the genotype–phenotype correlation and the association of these genes with hyperhomocysteinemia and correlated diseases.
机译：高同型半胱氨酸血症是动脉粥样硬化血栓形成疾病的众所周知的独立标记因子，可能是由于获得性和遗传因素引起的。怀疑有几种多态性与高同型半胱氨酸血症有关，但数据有限且不一致。高通量基因分型技术，例如GenomeLab SNPStream，现已可用。此外，适当选择要分析的SNP可能代表了确定遗传风险因素作用的强大资源。我们通过GenomeLab平台开发了多重PCR-寡核苷酸扩展方法。我们根据候选基因AHCY，BHMT，BHMT2，CBS，ENOSF1，FOLH1，MTHFD1，MTHFR，MTR，MTRR，NNMT，PON1，PON2，SLC19A1，SHMT1，TCN2和TYMS中的推定功能和频率，选择了72个SNP。我们能够分析57个SNP（占79％）。对于MTHFR C677T和A1298C和MTR A2756G SNP，我们比较了使用电子微芯片技术获得的数据，发现一致性为99.2％。我们还进行了单倍型分析。这种方法可能是研究基因型与表型的相关性以及这些基因与高同型半胱氨酸血症和相关疾病的关联的有用工具。

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