Abstract
Restriction endonuclease analyses of DNA from one Black GγAγ-HPFH homozygote and four Black and one Indian GγAγ-HPFH heterozygotes have identified three different HPFH types which are the result of large deletions including the δ and β genes. Two of the types are comparable to those characterized previously, but the third, which is present in the Indian heterozygote, shows a distinct difference in the size of the deletion. The 5′ end point of the deletion in this type III GγAγ-HPFH extends 0.5–1.0 kb beyond the 5′ end point of one of the Black types of HPFH (type I). Each of the three types is associated with a distinct ratio between the Gγ and the Aγ chains, an observation supported by family data. The highest ratio is found in the heterozygote with the Indian type III GγAγ-HPFH, with 69.3% Gγ chains, while the averages for the other types were 50.7% Gγ (type I) and 32.3% Gγ (type II).
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This research was supported in part by USPHS Research Grants HLB-05168 and HLB-15158 and by designated research funds of the Veterans Administration. This is Contribution 0764 of the Department of Cell and Molecular Biology, Medical College of Georgia, Augusta, Georgia 30912. P. K. Sukumaran was on leave from the Bai Jerbai Wadia Hospital for Children, Parel, Bombay, India.
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Kutlar, A., Gardiner, M.B., Headlee, M.G. et al. Heterogeneity in the molecular basis of three types of hereditary persistence of fetal hemoglobin and the relative synthesis of the Gγ and Aγ types of γ chain. Biochem Genet 22, 21–35 (1984). https://doi.org/10.1007/BF00499284
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DOI: https://doi.org/10.1007/BF00499284