title: Detection of the rs10250202 polymorphism in protection of telomeres 1 gene through introducing a new restriction enzyme site for PCR-RFLP assay.
abstract: Human protection of telomeres 1 (POT1) gene is a single stranded telomere binding proteins with a critical role in ensuring chromosome stability. There have been variants of POT1 gene, and the polymorphisms of POT1 gene were associated with some diseases. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) is a traditional method to detect the single nucleotide polymorphism (SNP), and it can be used to detect the polymorphism of rs10250202. But the restriction enzymes required for the detection of the polymorphism of rs10250202 are expensive. So we designed a novel PCR-RFLP assay for genotyping the POT1 rs10250202 SNP. In the study, a new restriction enzyme cutting site was created by created restriction site PCR (CRS-PCR), and the restriction enzyme BclI for CRS-PCR was cheaper than other enzymes. After detecting Han Chinese workers, Allele frequencies were found to be 51.54 % for allele A and 48.46 % for allele C respectively. The PCR results were confirmed by DNA sequencing. CRS-PCR provides a simple, low-cost, practical, and reproducible method.
authors.affiliation: Department of Occupational Health, College of Public Health, Zhengzhou University, Kexue Road 100, Zhengzhou, 450001 Henan Province China.|Department of Occupational Health, Henan Institute of Occupational Health, Kangfu Middle Street 3, Zhengzhou, 450052 Henan Province China.
authors.forename: Sihua
authors.initials: S
authors.lastname: Wang
authors.affiliation: Department of Occupational Health, College of Public Health, Zhengzhou University, Kexue Road 100, Zhengzhou, 450001 Henan Province China.
authors.forename: Xiaoran
authors.initials: X
authors.lastname: Duan
authors.affiliation: Department of Occupational Health, College of Public Health, Zhengzhou University, Kexue Road 100, Zhengzhou, 450001 Henan Province China.
authors.forename: Tuanwei
authors.initials: T
authors.lastname: Wang
authors.affiliation: Department of Occupational Health, College of Public Health, Zhengzhou University, Kexue Road 100, Zhengzhou, 450001 Henan Province China.
authors.forename: Xiaolei
authors.initials: X
authors.lastname: Feng
authors.affiliation: Department of Occupational Health, College of Public Health, Zhengzhou University, Kexue Road 100, Zhengzhou, 450001 Henan Province China.
authors.forename: Pengpeng
authors.initials: P
authors.lastname: Wang
authors.affiliation: Department of Occupational Health, College of Public Health, Zhengzhou University, Kexue Road 100, Zhengzhou, 450001 Henan Province China.
authors.forename: Wu
authors.initials: W
authors.lastname: Yao
authors.affiliation: Department of Hygiene Toxicology, College of Public Health, Zhengzhou University, Kexue Road 100, Zhengzhou, 450001 Henan Province China.
authors.forename: Yongjun
authors.initials: Y
authors.lastname: Wu
authors.affiliation: Department of Occupational Health, College of Public Health, Zhengzhou University, Kexue Road 100, Zhengzhou, 450001 Henan Province China.
authors.forename: Yiming
authors.initials: Y
authors.lastname: Wu
authors.affiliation: Department of Occupational Health, College of Public Health, Zhengzhou University, Kexue Road 100, Zhengzhou, 450001 Henan Province China.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Yan
authors.affiliation: Department of Hygiene Toxicology, College of Public Health, Zhengzhou University, Kexue Road 100, Zhengzhou, 450001 Henan Province China.
authors.forename: Feifei
authors.initials: F
authors.lastname: Feng
authors.affiliation: Department of Sanitary Chemistry, College of Public Health, Zhengzhou University, Kexue Road 100, Zhengzhou, 450001 Henan Province China.
authors.forename: Songcheng
authors.initials: S
authors.lastname: Yu
authors.affiliation: Department of Occupational Health, College of Public Health, Zhengzhou University, Kexue Road 100, Zhengzhou, 450001 Henan Province China.
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
keywords: Created restriction site; Protection of telomeres 1; Single nucleotide polymorphism