Yang, K. G. and Stoming, Terrance A. and Fei, You-Jun and Liang, Siyuan and Wong, S. C. and Masala, Bruno Lucio and Huang, R. B. and Wei, Z P and Huisman, Titus H. J. (1988) Identification of base substitutions in the promoter regions of the A γ- and G γ-globin genes in A γ- (or G γ-) β+-HPFH heterozygotes using the DNA-amplification-synthetic oligonucleotide procedure. Blood, Vol. 71 (5), p. 1414-1417. eISSN 1528-0020. Article.
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DNA amplification combined with hybridization with 32P-labeled synthetic oligonucleotide probes has been used to identify base substitutions in the 5' promoter region of the A γ-globin gene in members of eleven families from China, Sardinia, Canada, and the United States who had a heterozygosity for the A γ-β+-hereditary persistence of fetal hemoglobin (HPFH), and in members of six black families with a possible G γ-β+-HPFH heterozygosity. All three known A γ types were observed, ie, the British type (-198, T----C), the Chinese type (-196, C----T), and the Green type (-117, G----A); the latter has been found in a black family. Of the six families with G γ-β+-HPFH, three had C----G at -202 and none T----C -175. Conditions for hybridization of amplified DNA with the specific probes are provided and the usefulness of the technique is discussed. The increase in numbers of A γ(G γ)-β+-HPFH heterozygotes with specific base substitutions greatly enhances the probability of a direct correlation between these substitutions and the increase in the production of a specific gamma chain.
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