Abstract
The present study was carried out in 112 camels belonging to Bikaneri, Jaisalmeri, Kachchhi and Mewari breeds of Indian dromedary to detect point mutation in ĸ- casein encoding gene. Amplification of 488 bp fragment of ĸ-Casein gene spanning from -137 (5' flanking region) to +351 bp of ĸ-CN gene was carried out and genotyped for the g.1029T>C SNP using the restriction enzyme AluI in PCR-RFLP analysis. Three restriction patterns were resolved on 3.5% agarose gels. The pattern, comprising of 203 bp, 158 bp and 127 bp bands, was resolved successfully for the TT samples. The g.1029T>C transition created an additional restriction site for the enzyme AluI leading to the digestion of 158 bp band into two fragments of 120 bp and 38 bp resulting in the 5 band pattern of 203 bp, 158 bp, 127 bp, 120 bp and 38 bp for CT genotype and 4 band pattern of 203 bp, 127 bp, 120 bp and 38 bp for CC genotype. The genotype frequency, pooled over breed, was 0.045, 0.384 and 0.571 for the CC, CT and TT genotypes, respectively. The frequency of major allele T was observed to be 0.763 and that of C was observed to be 0.237. The existence of CT genotype in sizable number documents the dynamic nature of the locus g.1029T>C SNP, in Indian dromedary breeds. Almost comparable polymorphism was observed in both the sexes. The 3 genotypes, viz. CC, CT, TT, were almost equally distributed among the four Indian breeds (x2=3.4529; P = 0.750224). The frequency of C allele was lowest in Bikaneri and highest in the Mewari breed. Though the frequency of C allele (Cytosine) in Indian dromedary is relatively low (0.237), still a rapid directional selection might be attempted in favour of the C allele, which is responsible for the creation of an extra putative site for the Hepatocyte Nuclear Factor - 1 (HNF-1) transcription factor. The HNF-1 is reported to be involved in regulation of a number of genes associated with innate immunity, lipid and glucose transport, metabolism etc.
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