An allele associated with a non-detectable amount of alpha s2 casein in goat milk

Anim Genet. 2001 Feb;32(1):19-26. doi: 10.1046/j.1365-2052.2001.00710.x.

Abstract

The goat CSN1S2 locus is characterized by the presence of three alleles, A, B and C, all associated with about 2.5 g/l of protein per allele. The SDS-PAGE analysis of 441 individual milk samples obtained from goats belonging to a population reared in Southern Italy showed that the milk produced by three goats did not apparently contain alpha s2-casein, whereas milk produced by 37 goats showed a less intense electrophoretic band of this casein fraction (about 50%). These results can be explained by hypothesizing the presence of another allele at this locus, CSN1S2o, associated with a 'null' content of alpha s2-casein. Southern blot, PCR and PCR-RFLP analyses of the DNA region containing the CSN1S2 gene of individuals producing milk with and without alpha s2-casein did not show differences between the two groups. As a consequence, goats producing milk without alpha s2-casein carry an apparently intact gene. The first results obtained by sequencing part of the CSN1S2o allele revealed a G-->A transition at nucleotide 80 of the 11th exon which creates a stop codon and could be responsible for the absence of the alpha s2-casein in goat milk. This mutation eliminates a NcoI restriction site. A test based on this polymorphism has been established in order to identify carriers of the CSN1S2o allele.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Animals
  • Base Sequence
  • Blotting, Southern
  • Caseins / genetics*
  • Caseins / metabolism
  • Codon, Terminator
  • DNA / genetics
  • DNA Primers
  • Electrophoresis, Polyacrylamide Gel
  • Goats / genetics*
  • Peptide Fragments / genetics*
  • Peptide Fragments / metabolism
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length

Substances

  • Caseins
  • Codon, Terminator
  • DNA Primers
  • Peptide Fragments
  • DNA