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  • Title: Linkage between fetal A gamma globin chain polymorphism and DNA polymorphism of the human beta gene cluster in beta thalassaemia.
    Author: Beldjord C, Arbane M, Lapoumeroulie C, Rouyer-Fessard P, Benabadji M, Labie D, Beuzard Y.
    Journal: Mol Biol Med; 1984 Aug; 2(4):301-6. PubMed ID: 6100562.
    Abstract:
    The association between the polymorphism of the A gamma chain of human fetal haemoglobin and the DNA polymorphism at the beta gene cluster has been investigated. The A gamma 75 threonine mutation was found in association with haplotypes II and VI described by Orkin et al. (1982), which share the HindIII cleavage site in the A gamma IVS 2 sequence. The distance between the two polymorphic sites is 868 base-pairs. In contrast, haplotypes I, III, V and IX which do not possess this HindIII cleavage site were associated with the normal A gamma 75 isoleucine allele. The simple detection of the gamma gene polymorphism at the protein level can be useful for identifying DNA haplotypes, and therefore beta thalassaemic mutations.
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