Genotyping of single nucleotide polymorphisms using the SNP-RFLP method

Bioscience Trends
Saifullah, Toshifumi Tsukahara

Abstract

Genetic polymorphisms, including single nucleotide polymorphisms (SNPs), are responsible for inter-individual variability in susceptibility to cancer and other disorders. Both environmental factors (e.g., smoking or carcinogen exposure) and genetic variation underlie the development of cancer; however, studies of twins suggest that genetic variation is more important. Hence, the identification of SNPs makes an important contribution to cancer research. In this study, 13 SNPs in 12 genes were genotyped in HEK 293 and HeLa cells using the simple and inexpensive SNP-RFLP method. Sanger sequencing was performed for one SNP to validate the SNP-RFLP results. Of the 13 SNPs, 10 were homozygous and three were heterozygous (rs10937405, rs12296850, and rs3814113) in HEK 293 cells, while 12 were homozygous and one was heterozygous (rs995030) in HeLa cells. The cells carried eight disease-associated risk alleles (32% of typed alleles), including rs2853677, rs995030, rs2736100, and rs6010620 in HEK 293 cells, and rs10937405, rs3814113, rs4767364, and rs6010620 in HeLa cells. Four SNP loci were homozygous for different alleles in each cell line, with HEK 293 cells having a CC genotype at rs2853677, GG at rs2736100 and rs4767364, and TT at rs...Continue Reading

References

Dec 6, 2001·Nature Reviews. Genetics·A C Syvänen
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Feb 3, 2007·American Journal of Human Genetics·Yi HanKenneth K Kidd
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Mar 5, 2011·Circulation Journal : Official Journal of the Japanese Circulation Society·Fumihiko TakeuchiNorihiro Kato

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Citations

Feb 13, 2019·BioTechniques·Saifullah SToshifumi Tsukahara
Dec 2, 2020·International Journal of Molecular Sciences· SaifullahToshifumi Tsukahara
Jul 6, 2021·Saudi Journal of Biological Sciences·Mikhlid H AlmutairiAbdelhabib Semlali

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