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- W1968601466 abstract "When homologous mutations occurring, respectively, in the (Yand P-chains of human adult Hb (A) are compared one finds that the product of the variant a-chain gene amounts to about one-half of that of the corresponding variant P-chain gene. The a-chain mutant contributes about one-quarter to the total and the homologous abnormal P-chain about onehalf. This led to the suggestion that the a-chain gene is duplicated so that a mutation would affect only one-half of the available a-chain genes [ 1 ] . The duplication of the human a-chain gene is now accepted as a fact in view of the subsequent finding of several homozygotes for a-chain variants who also possess Hb A. These have been summarised recently [2] . However the question was raised whether the a-chain gene duplication is universal in man. Homozygotes for Hb JOY Tongariki have been described who possess the variant only and no Hb A [3] , and a number of a-chain abnormal Hbs are found in the heterozygous state at a proportion of one-third or even one-half rather than one-quarter, i.e., more than one would expect from a mutation affecting merely one of four a-chain genes per individual. Lehmann and Lang [4] reviewed these observations and suggested that they did not rule out a universal duplication of the a-chain gene if one assumed that in these cases the second gene had been prevented from expression by an a-thalassaemia. For the homozygote for Hb Ja Tongariki this has" @default.
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- W1968601466 date "1978-12-15" @default.
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- W1968601466 title "A Hb J cape town homozygote - association of Hb J cape town and alpha-thalassaemia" @default.
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- W1968601466 doi "https://doi.org/10.1016/0014-5793(78)80429-3" @default.
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