Identification of point mutation in Exon 2 of MBL1 gene and its relationship with Somatic Cell Score (SCS) in Sahiwal cattle.

Mannose-binding lectin (MBL) is one of the most important constituent and a pattern recognition molecule of the innate immune system. MBL gene possibly contributes to bacterial infection resistance and was proposed as a molecular marker for milk production traits to control mastitis. Due to its location near to QTLs associated with Somatic cell score (SCS) and mastitis, the MBL1 gene may be considered as a candidate gene. Sahiwal cows in milk were selected randomly to identify g.2686T>C point mutation in exon 2 of MBL1 gene and its association with somatic cell score. A 401 bp PCR fragment of MBL1 gene encompassing the exon 2 was amplified and digested with Hae III to screen the reported SNP. Genotype analysis using PCR-RFLP revealed a polymorphic banding pattern. Sequencing was also carried out to validate the PCR-RFLP results of nucleotide sequence in a particular region. The preliminary information obtained from the study indicated that the targeted variantof MBL1 gene in indigenous cattle had no association with SCS and mastitis resistance which may be a breed specific characteristic. Since present study has formulated the results based on a relatively small sample size, further studies with large sample size are required to validate these results. [ABSTRACT FROM AUTHOR]

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