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Single Nucleotide Polymorphisms in the Ovine Casein Genes Detected by Polymerase Chain Reaction-Single Strand Conformation Polymorphism

¹ Dipartimento di Scienze e Tecnologie Veterinarie per la Sicurezza Alimentare, Università degli Studi di Milano, 20134 Milano, Italy
² Fondazione Parco Tecnologico Padano, Centro Ricerche e Studi Agroalimentari, 20090 Segrate (Milano), Italy
³ Dipartimento di Scienze Zootecniche, Università degli Studi di Perugia, 06100 Perugia, Italy
⁴ Dipartimento di Sanità e Benessere Animale, Università di Bari, 70010 Valenzano (Bari), Italy

Corresponding author: G. Ceriotti; e-mail: gabriella.ceriotti{at}unimi.it.

Casein genetic polymorphisms are important and well known due to their effects on quantitative traits and technological properties of milk. At the DNA level, polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) allows for the simultaneous typing of several alleles at casein loci, as well as the detection of unknown polymorphisms. Here we describe the usefulness of the PCR-SSCP technique for casein typing in sheep. In particular, three single-nucleotide polymorphisms (SNP) are described at CSN1S1, CSN2, and CSN3, all resulting in amino acid exchanges. At CSN1S1, a transition T C was found, resulting in the deduced amino acid exchange Ile₁₈₆ Thr₁₈₆. A transition A G resulting in the deduced amino acid exchange Met₁₈₃ Val₁₈₃ was identified at CSN2. The 2 SNP showed a rather high frequency (ranging from 0.12 to 0.26) in 3 Italian breeds (Sarda, Comisana, Sopravissana). Another transition C T (Ser₁₀₄ Leu₁₀₄) was found at CSN3 in one heterozygous animal.

Key Words: sheep • casein • genetic polymorphism • SSCP

Abbreviation key: AS = allele specific, CSN1S1 = _s1-casein locus, CSN2 = ß-casein locus, CSN3 = -casein locus, RFLP = restriction fragment length polymorphism, SNP = single nucleotide polymorphism, SSCP = single-strand conformation polymorphism, TBE = Tris-borate-EDTA

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