Identification of single nucleotide polymorphisms in two DNA double-strand break repair genes--XRCC4 and RAD51
Date
2000
Authors
Kyle, Victoria Lea
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Abstract
The most common variations in human gene sequences are single nucleotide polymorphisms (SNPs). SNPs may be responsible for susceptibility or sensitivity to various human diseases, including cancer. The goal of this study is to assess variability within double-strand break repair (DSBR) genes and the distribution of these genes in the healthy and cancer-affected populations. The hypothesis is that polymorphic variants of these repair genes with adverse functional consequences will be more closely associated with the cancer population in comparison to the control population. Using the heterozygote sequencing protocol, SNPs present in the sequences of two DNA double-strand break repair genes, XRCC4 and RAD51, have been identified in cancer samples and healthy control samples. Two SNPs are found in XRCC4, while no variation is seen in RAD5 l. Possible associations of DSBR sequence variation to disease sensitivity can be assessed relative to the baseline of variation seen in these genes.