Single nucleotide polymorphism of x-ray repair cross Complementing 1 (XRCCI) gene at codon 194 (Arg to Trp) in gastrointestinal cancer

Merilyn Melinda James C., (2008) Single nucleotide polymorphism of x-ray repair cross Complementing 1 (XRCCI) gene at codon 194 (Arg to Trp) in gastrointestinal cancer. Universiti Malaysia Sabah. (Unpublished)


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This study focused on the polymorphisms in the X-Ray Cross Complementing 1 (XRCCI) gene in the gastrointestinal cancer. The main objective of this study is to investigate the effect of single nucleotide polymorphisms of XRCC 1 at codon 194 (Arg→Trp) on gastrointestinal cancer. This study was conducted with a case-control study which includes 11 patients with gastrointestinal cancer from Queen Elizabeth Hospital and one healthy individual as a control case. There were four methods were one for the molecular analysis of the polymorphisms in the gene. The genomic DNA was extracted from the whole blood and was used to genotype XRCCI Arg194Trp by using the polymerase chain reaction (PCR). PCR will amplify the region of DNA that contains the Arg194Trp site. The PCR products were digested using restriction enzyme, Pvull. The resulting restriction products were then visualized on agarose gel electrophoresis. The result of this study showed that, the genotype frequency for the homozygote wild-type is 0.625 and the genotype frequency for the heterozygote and homozygote variants are 0.375 and 0.0 respectively. Therefore, the polymorphism of XRCC 1 gene at codon 194 (Arg to Trp) affects the development of gastrointestinal cancer and contributes to a lower risk in the gastrointestinal cancer, in which the genotype frequency of the heterozygous variant was very low that is 0.375. Since the case-control study was very low in number, thus statistical analysis is could not be performed. However, the data were analyzed by determining the allele frequency of the genotypes. These suggested that, XRCCI Arg194Trp genotype contribute to a lower risk of gastrointestinal cancer in the Sabah population.

Item Type: Academic Exercise
Uncontrolled Keywords: nucleotide polymorphism, X-Ray Cross Complementing, gastrointestinal cancer, DNA, PCR
Subjects: Q Science > QH Natural history > QH301 Biology
R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer)
Divisions: SCHOOL > School of Science and Technology
Date Deposited: 27 Feb 2014 01:36
Last Modified: 12 Oct 2017 04:12

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