Detection of the Single Nucleotide Polymorphism at Position rs2735940 in the Human Telomerase Reverse Transcriptase Gene by the Introduction of a New Restriction Enzyme Site for the PCR-RFLP Assay.
It has been shown that the single nucleotide polymorphism (SNP) of the rs2735940 site in the human telomerase reverse transcriptase (hTERT) gene is associated with increased cancer risk. The traditional method to detect SNP genotypes is polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). However, there is a limitation to utilizing PCR-RFLP due to a lack of proper restriction enzyme sites at many polymorphic loci. This study used an improved PCR-RFLP method with a mismatched base for detection of the SNP rs2735940. A new restriction enzyme cutting site was created by created restriction site PCR (CRS-PCR), and in addition, the restriction enzyme MspI for CRS-PCR was cheaper than other enzymes. We used this novel assay to determine the allele frequencies in 552 healthy Chinese Han individuals, and found the allele frequencies to be 63% for allele C and 37% for allele T In summary, the modified PCR-RFLP can be used to detect the SNP of rs2735940 with low cost and high efficiency.
['Wang|Sihua|S|', 'Ding|Mingcui|M|', 'Duan|Xiaoran|X|', 'Wang|Tuanwei|T|', 'Feng|Xiaolei|X|', 'Wang|Pengpeng|P|', 'Yao|Wu|W|', 'Wu|Yongjun|Y|', 'Yan|Zhen|Z|', 'Feng|Feifei|F|', 'Yu|Songcheng|S|', 'Wang|Wei|W|']
D000293:Adolescent D000328:Adult D000483:Alleles D054458:Amplified Fragment Length Polymorphism Analysis D044466:Asians D002681:China D003365:Costs and Cost Analysis D019003:Deoxyribonuclease HpaII D005260:Female D005787:Gene Frequency D056726:Genetic Association Studies D020022:Genetic Predisposition to Disease D060005:Genotyping Techniques D006801:Humans D008297:Male D008875:Middle Aged D009369:Neoplasms D016133:Polymerase Chain Reaction D020641:Polymorphism, Single Nucleotide D019098:Telomerase D013997:Time Factors D055815:Young Adult
single nucleotide polymorphism rs2735940 telomerase reverse transcriptase gene PCR-RFLP