Characterization of four novel variants of goat beta(A) -globin gene.

Four novel alleles of the adult beta-globin gene of Capra hircus were observed in an extended study on hemoglobin polymorphism in goat breeds living in the island of Sardinia Nucleotide sequencing showed that one of these alleles is due to a 2 bp substitution at codon 125 (CTG --> GAG, Leu --> Glu). Two substitutions, the silent CTT --> CTC for Leu at codon 78 and the conservative AAG --> AGG (Lys --> Arg) at codon 104, are shared by the other three alleles, two of them having additional mutations, which suggests a common origin. The allele we provisionally called the beta(Y) shares four out of five amino acid substitutions, together with the same polymorphisms in the IVSII, we observed previously in the rather common beta(E) gene. This evidence allowed the origin of the beta(E) gene to be better characterized. The data increase to seven the number of alleles at the goat beta(A)-globin locus characterized thus far at the molecular level. A simplified nomenclaturefor the increasing number of goat beta-globin alleles is presented.