Ayesha Farooq, Abdul Khaliq Naveed, Inayat Ur Rahman, Zahid Azeem.
Genetic analysis of four selected exons of BRCA1 gene in different ethnic groups in Pakistan.
Isra Med J Jan ;5(2):98-102.

OBJECTIVE: To analyze the BRCA1 gene for mutations in patients with breast and ovarian cancer belonging to different ethnic groups of the Pakistan with the aim to spot out recurrent founder mutations. STUDY DESIGN: Descriptive study, PLACE AND DURATION: This study was conducted over a period of two years at the Centre for Research in Applied and Experimental Medicine, National University of Science and Technology (NUST), Rawalpindi. METHODOLOGY: In this study mutational analysis of 4 major exons of BRCA1 gene was performed in 40 diagnosed cases of female breast and ovarian cancer belonging to various ethnic backgrounds. The genomic DNA was isolated from the blood samples. Primers of BRCA1 gene were designed and used for amplification of the region of interest. Results were recorded on BIORAD Gel Documentation System. Sequencing of the gene for variants was done using Automated DNA Sequencer. Interpretation of chromatograms was done using Bioinformatics software. RESULTS: The study group comprised of familial cases of breast and ovarian cancer with diverse ethnic composition that included Punjabis n=40 (40%), Kashmiris n=20 (20%) and Pathans n=20 (20%), Balouchis n=10 (10%) and Muhajirs n=10 (10%). PCR amplified DNA from the samples revealed bands having both high quality and quantity of DNA. After extensively embarking on all four exons no functional sequence variant was detected in these chosen exons. CONCLUSION: Our results suggest the involvement of other coding sequences of this gene apart from those assessed in our study group. This emphasizes the need for assessing the complete BRCA1 gene in all ethnic groups located in Pakistani territory.

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