Allele Frequency Estimation of Single Nucleotide Polymorphisms in the Promoter and 5’untranslated Region of Vascular Endothelial Growth Factor in Thai Breast Cancer Patients
Doonyapat Sa-nguanraksa MD, PhD*, Prida Malasit MD**,***, Pornchai O-charoenrat MD, PhD*
Affiliation : * Division of Head Neck and Breast Surgery, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand ** Division of Dengue Hemorrhagic Fever Unit, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand *** Medical Biotechnology Research Unit, National Center for Genetic Engineering and Biotechnology, National Science and Technology Development Agency, Bangkok, Thailand
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
