Two novel alleles at the goat CSN1S2 locus have been identified: CSN1S2(F)
and CSN1S2(D). Sequence analyses revealed that the CSN1S2(F) allele is char
acterized by a G -->A transition at the 13th nucleotide in exon 3 changing
the seventh amino acid of the mature protein from Val to Ile. The CSN1S2(D)
allele, apparently associated with a decreased synthesis of alpha s2-casei
n. is characterized by a 106-bp deletion. involving the last 11 bp of the e
xon 11 and the first 95 bp of the following intron. Methods (PCR-RFLP and P
CR) for identification of carriers of these alleles have been developed.