인간 게놈의 단일염기변형 (Single Nucleotide Polymorphism; SNP)에 대한 이해

• 영문명: UNDERSTANDING OF SINGLE NUCLEOTIDE POLYMORPHISM OF HUMAN GENOME
• 발행기관: 대한구강악안면외과학회
• 저자명: 오정환(Jung-Hwan Oh) 윤병욱(Byung-Wook Yoon)
• 간행물 정보: 『대한구강악안면외과학회지』대한구강악안면회과학회지 제34권 제4호, 450~455쪽, 전체 6쪽
• 주제분류: 의약학 > 내과학
• 파일형태: PDF
• 발행일자: 2008.08.10

영문 초록

A Single Nucleotide Polymorphism (SNP) is a small genetic change or variation that can occur within a DNA sequence. It’s the difference of one base at specific base pair position. SNP variation occurs when a single nucleotide, such as an A, replaces one of the other three nucleotide letters-C, G, or T. On average, SNP occur in the human population more than 1 percent of the time. They occur once in every 300 nucleotides on average, which means there are roughly 10 million SNPs in the human genome. Because SNPs occur frequently throughout the genome and tend to be relatively stable genetically, they serve as excellent biological markers. They can help scientists locate genes that are associated with disease such as heart disease, cancer, diabetes. They can also be used to track the inheritance of disease genes within families. SNPs may also be associated with absorbance and clearance of therapeutic agents. In the future, the most appropriate drug for an individual could be determined in advance of treatment by analyzing a patient’s SNP profile. This pharmacogenetic strategy heralds an era in which the choice of drugs for a particular patient will be based on evidence rather than trial and error (so called“ personalized medicine”).

키워드

Single Nucleotide Polymorphism (SNP) Biological Marker Personalized Medicine