Genetic profiling and validation of point mutation in exon 10 of breast cancer

Title: Genetic profiling and validation of point mutation in exon 10 of breast cancer 1 gene (BRCA1) and its relationship with clinical mastitis in Sahiwal cattle

Authors: Ankit Magotra, ID Gupta, Archana Verma, Rani Alex, Vineeth MR, Ashwani Arya, Vijay Kumar and Deepak Kumar Tiwari

Source: Ruminant Science (2016)-5(1):1-4.

Cite this reference as: Magotra Ankit, Gupta ID, Verma Archana, Alex Rani, Vineeth MR, Arya Ashwani, Kumar Vijay and Tiwari DK (2016). Genetic profiling and validation of point mutation in exon 10 of breast cancer 1 gene (BRCA1) and its relationship with clinical mastitis in Sahiwal cattle. Ruminant Science 5(1):1-4.


Breast cancer 1 (BRCA1) was cloned as one of the genes that conferred genetic predisposition to early onset breast cancer, which works in the process of DNA damage repair, cell cycle regulation, transcriptional regulation, other important pathway to inhibit tumor and make sure of the maintenance of genome stability. The objective of this study was to characterize and validate the candidate point mutation in breast cancer 1 gene, early onset gene (BRCA1) in Sahiwal cattle. The bovine BRCA1 gene was reported as one of the potential candidate gene influencing somatic cell score (SCS) and mastitis. A total of 120 Sahiwal cattle were selected to characterize targeted region i.e exon 10 of BRCA1 gene to identify polymorphism and its association with mastitis susceptibility/resistance. A PCR product of 217 bp amplifying the exon 10 of BRCA1 gene was digested with BspT I restriction enzyme to screen the reported point mutation C28300 A significantly associated with somatic cell score (SCS). All animals were found to be monomorphic with respect to reported SNP i.e (C28300A). The result indicates highly conserved sequence in Sahiwal population under study. Since present study has formulated the results based on a relatively small sample, further studies are required to explore candidate point mutation in large samples.


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