Lee Jong-Eun
DNA Link Inc., Seoul, Korea.
Forum Nutr. 2007;60:97-101. doi: 10.1159/000107078.
There are many genetic variations in the human genome. The most abundant form of genetic variation is the single nucleotide polymorphism (SNP). SNPs are thought to be responsible for observable differences in biological processes among individuals of a population. Genetic association studies utilizing SNP markers are expected to allow identification of genetic factors responsible for complex phenotypes like chronic diseases and responses to various nutritional elements. Success of such studies relies on detecting genetic markers either directly responsible for the phenotype or the markers with a close relationship with causative markers. There are over 10 million SNPs reported and each SNP contains limited genetic information due to the limited number of alleles. To cover these limitations, researchers have to genotype many SNP markers to find appropriate associations. As a result, the need for efficient high-throughput SNP genotyping technologies is high and many efficient high-throughput SNP genotyping technologies have been developed. Highly efficient systems that can handle as many as 500,000 SNPs at a time have been developed and technological advances have transformed genome-wide association studies into reality.
人类基因组存在许多基因变异。基因变异最丰富的形式是单核苷酸多态性(SNP)。SNP被认为是导致群体中个体间生物学过程出现可观察差异的原因。利用SNP标记进行的基因关联研究有望识别出导致复杂表型(如慢性病和对各种营养元素的反应)的遗传因素。此类研究的成功依赖于检测直接导致表型的遗传标记或与致病标记密切相关的标记。目前已报道了超过1000万个SNP,由于等位基因数量有限,每个SNP包含的遗传信息也有限。为了克服这些局限性,研究人员不得不对许多SNP标记进行基因分型以找到合适的关联。因此,对高效高通量SNP基因分型技术的需求很高,并且已经开发出了许多高效的高通量SNP基因分型技术。已经开发出了能够一次处理多达50万个SNP的高效系统,技术进步已使全基因组关联研究成为现实。