A point mutation in the splice donor site of intron 7 in the ls2-casein encoding gene of the Mediterranean River buffalo results in an allele-specific exon skipping

摘要

The CSN1S2 cDNA of 10 unrelated Mediterranean River Buffaloes reared in Southern Italy was amplified by RT-PCR, while the region from the 6th to the 8th exon of the CSN1S2 gene was amplified from genomic template. All amplicons were sequenced twice and in both directions. Fifty-three individuals randomly chosen from four breeding herds were genotyped for an AluI-restriction fragment length polymorphism (RFLP). Primer sequences and PCR conditions are given in Tables S1 & S2. Three individual milk samples from buffaloes with different genotypes at CSN1S2 were analysed by reverse-phase-high pressure liquid chromatography (RP-HPLC).