J Med Assoc Thai 2017; 100 (3):48

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Allele Frequency Estimation of Single Nucleotide Polymorphisms in the Promoter and 5’untranslated Region of Vascular Endothelial Growth Factor in Thai Breast Cancer Patients
Sa-nguanraksa D Mail, Malasit P , O-charoenrat P

Background: Polymorphisms in the promoter and 5’untranslated region of vascular endothelial growth factor (VEGF) had been reported to be associated with increased risk and aggressiveness of breast cancer via alteration of promoter activity.
Objective: To screen for novel polymorphisms in the promoter and 5’untranslated region of VEGF and estimate allele frequency.
Material and Method: Screening of novel single nucleotide polymorphisms was performed by direct sequencing of pooled
genomic DNA from 100 Thai breast cancer patients. Estimated allele frequency was calculated according to adjusted peak height compared to that of heterozygous individual chromatogram.
Results: Estimated allele frequency of the known polymorphisms was comparable with the observed allele frequency obtained by genotyping of individual genomic DNA. However, no novel polymorphisms could be identified.
Conclusion: This method might be employed to screen for novel informative single nucleotide polymorphisms or estimate
allele frequency as the preliminary data before large scale genotyping.

Keywords: Breast cancer, Vascular endothelial growth factor, Polymorphisms, DNA sequencing


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