Sripichai Orapan, Fucharoen Suthat
Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Phutthamonthon, Nakhonpathom, Thailand.
J Med Assoc Thai. 2007 Feb;90(2):394-8.
After the sequencing of the human genome is done, enormous genomic information and high-throughput profiling technologies are used. Increased attention has been paid to applying this knowledge to get better understanding of inherited diseases and complex disorders. Single nucleotide polymorphisms (SNPs) are DNA sequence variations that occur when a single nucleotide in the genome sequence is altered SNPs are an important tool for the study of the human genome. Application of SNPs analysis to human disease permits exploration of the influence of genetic polymorphisms on disease susceptibility, drug sensitivity/resistance, and ultimately health care. Databases of SNPs provide a powerful resource for association studies that try to establish a relationship between a phenotype and regions of the genome. Genomic approaches have garnered so much attention and investment because they offer the potential to provide better understanding of genetic factors in human health and disease, as well as more-precise definitions of the non-genetic factors involved.
人类基因组测序完成后，人们运用了海量的基因组信息和高通量分析技术。为了更好地理解遗传性疾病和复杂病症，这些知识的应用受到了更多关注。单核苷酸多态性（SNP）是指基因组序列中的单个核苷酸发生改变时出现的DNA序列变异，SNP是研究人类基因组的重要工具。将SNP分析应用于人类疾病研究，有助于探究基因多态性对疾病易感性、药物敏感性/耐药性的影响，进而影响医疗保健。SNP数据库为关联研究提供了强大资源，关联研究旨在建立表型与基因组区域之间的关系。基因组学方法备受关注并获得大量投资，因为它们有潜力让人们更好地理解人类健康和疾病中的遗传因素，以及更精确地定义其中涉及的非遗传因素。
