Heterogeneity in the molecular basis of three types of hereditary persistence of fetal hemoglobin and the relative synthesis of the G? and A? types of ? chain
| Autor: | Titus H.J. Huisman, P. K. Sukumaran, Abdullah Kutlar, M. G. Headlee, M. B. Gardiner, S. Nagle, M. P. Cleek, A. L. Reese |
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| Rok vydání: | 1984 |
| Předmět: |
Genetics
End point Hereditary persistence of fetal hemoglobin Heterozygote advantage General Medicine Biology medicine.disease Biochemistry Molecular biology Restriction enzyme chemistry.chemical_compound chemistry Fetal hemoglobin medicine Base sequence Molecular Biology Gene Ecology Evolution Behavior and Systematics DNA |
| Zdroj: | Biochemical Genetics. 22:21-35 |
| ISSN: | 1573-4927 0006-2928 |
| Popis: | 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). |
| Databáze: | OpenAIRE |
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