Association of genetic variation at intronic region of bovine brca1 gene with occurrence of mastitis in HF crossbred cattle

Title: Association of genetic variation at intronic region of bovine brca1 gene with occurrence of mastitis in HF crossbred cattle

Authors: Shankarappa Bhajantri, MR Jayashankar, R Nagaraja, YB Rajeshwari, A Krishnaswamy, SB Prasanna, S Naveen Kumar and HMYathish

Source: Ruminant Science (2018)-7(1):37-41.

Cite this reference as: Bhajantri Shankarappa, Jayashankar MR, Nagaraja R, Rajeshwari YB, Krishnaswamy A, Prasanna SB, Kumar SN and Yathish HM (2018). Association of genetic variation at intronic region of bovine brca1 gene with occurrence of mastitis in HF crossbred cattle. Ruminant Science 7(1):37-41.


Breast cancer 1, early onset gene (BRCA1) is one of the most potent genes located within or nearby the genomic region of somatic cell score (SCS) quantitative trait loci (QTL) and is considered as a candidate gene for disease resistance. The present study was carried out to explore the polymorphism in intronic region of BRCA1 gene and its association with mastitis in HF crossbred cows using PCR-RFLP. Milk and blood samples were collected from 152 unrelated lactating HF crossbred cows. Milk samples were subjected to California mastitis test (CMT), electrical conductivity (EC) and somatic cell count (SCC) tests. The animals were classified into mastitis free (52) and mastitis affected (100) groups mainly based on SCC because of its higher sensitivity and specificity as compared to CMT and EC. The PCR-RFLP analysis of intron 6 region (321bp) of BRCA1 gene revealed the existance of genetic variation, where the frequencies of AA, BB and AB, genotypes were 0.21, 0.17 and 0.62, respectively and the frequencies of A and B alleles were 0.51 and 0.49, respectively. Sequencing of representative samples for each genotype confirmed the presence of 321 bp nucleotides conforming to the intron 6 region of BRCA1 gene and revealed no nucleotide changes in HhaI restriction sites in ‘A’ allele. Alignment of ‘A’ and ‘B’ allele sequences revealed G>A transition at 272nd and C>A transversion at 273rd positions in ‘B’ allele. The chi-square analysis revealed the deviation of HF crossbred population from HWE. Further, chi-square analysis did not reveal any significant association between BRCA1 genotypes and mastitis.



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