Association of specific genotype and haplotype of p53 gene with cervical cancer in India

作者: S Mitra , C Misra , RK Singh , CK Panda , S Roychoudhury

DOI: 10.1136/JCP.2004.019315

关键词: Gene duplicationPapillomaviridaeRestriction fragment length polymorphismGeneHaplotypeGenotypeCancerBiologyAlleleGenetics

摘要: Background: The predictive value of codon 72 arginine homozygosity at the p53 gene for human papilloma virus associated cervical cancer risk remains inconclusive. It has also been proposed that inheritance specific germline haplotypes based on three biallelic polymorphisms (intron 3 16 bp duplication, Bst UI (Arg/Pro), and intron 6 Nci I restriction fragment length polymorphism nucleotide 13494) is a better predictor various risks. Aims: To determine genotype haplotype frequency these in 61 patients with squamous cell carcinoma 94 ethnically matched controls from eastern region India estimate risk, if any, genotypes haplotypes. Methods: Samples were genotyped by polymerase chain reaction followed variant enzyme digestion. Haplotypes estimated maximum likelihood method using expectation maximisation algorithm. Results: Genotype distributions showed good fit to Hardy-Weinberg equilibrium. homozygous was significantly over represented compared controls. Those exhibited 2.59 fold higher developing uterine cervix. A significant seen combination two haplotypes, 1–2–1 1–2–2. Conclusion: homozygotes appear be greater high 1–2–2 contain allele, further strengthening this conclusion.

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