Bowling A T, Scott A M, Flint J, Clegg J B
MRC Molecular Haematology Unit, Nuffield Department of Clinical Medicine, University of Oxford, UK.
Anim Genet. 1988;19(2):87-101. doi: 10.1111/j.1365-2052.1988.tb00795.x.
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.
已鉴定出四种在马中产生异常血红蛋白表型的次要单倍型。其中两种，AIIb和V，是拷贝数变异体，分别有一个和三个α基因，而不是正常的两个α基因互补。另一方面，AIIa和C单倍型各有两个α基因，但由于可能的基因转换，它们现在编码相同的（尽管是单倍型特异性的）珠蛋白。在研究的60匹无亲缘关系且表型正常的马中，有两匹马在胚胎ζ基因座发生了异常的三重重排。这些变异体似乎都是由异常重组事件产生的。
