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Four minor haplotypes that produce abnormal haemoglobin phenotypes in horses have been characterized. Two of them, AIIb and V, are copy number variants with, respectively, one and three alpha genes instead of the normal complement of two. The AIIa and C haplotypes, on the other hand, each have two alpha genes but, as a result of probable gene conversions, they now encode identical, though haplotype specific, globins. Two out of 60 unrelated and phenotypically normal horses studied had an unusual triplicated rearrangement in the embryonic zeta-gene locus. Each of these variants appears to have been produced by aberrant recombination events.

Type

Journal article

Journal

Anim Genet

Publication Date

1988

Volume

19

Pages

87 - 101

Keywords

Animals, Gene Frequency, Globins, Haplotypes, Hemoglobins, Heterozygote, Horses, Phenotype, Recombination, Genetic