Five haplotypes in Black beta-thalassaemia heterozygotes: three are associated with high and two with low G gamma values in fetal haemoglobin
| Autor: | R. Ryan, A. L. Reese, B. L. Abraham, T. Harano, Titus H.J. Huisman |
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| Rok vydání: | 1985 |
| Předmět: |
Erythrocyte Indices
Male Heterozygote Genotype Black People Biology Loss of heterozygosity Gene Frequency Fetal hemoglobin Humans Allele Beta (finance) Alleles Fetal Hemoglobin Genetics Haplotype Chromosome Mapping Hematology DNA Restriction Enzymes Molecular biology Pedigree Restriction enzyme Restriction site Thalassemia Female |
| Zdroj: | British journal of haematology. 59(2) |
| ISSN: | 0007-1048 |
| Popis: | Genotypes at seven different polymorphic restriction sites (5' to the epsilon gene, at the G gamma, at the A gamma, at the psi beta, 3' to the psi beta, at the beta, and 3' to the beta genes) were analysed by restriction endonuclease mapping of the DNA from 66 Black beta-thalassaemia heterozygotes from Georgia and several of their normal relatives. Five different haplotypes were observed. Three of these were associated with high G gamma values in the small amount of Hb F (0.8-8.3%) present in the blood of these patients and two with low G gamma values. One haplotype [- + - + + + +] that occurred on two of every three beta thalassaemia chromosomes was associated with high G gamma levels, and is the same as that found in some Black SS patients also having high G gamma values (Gilman & Huisman, 1984). Two others [- + + - + - +] and [- + - - + + +] were also associated with high G gamma, while two [- - - - + + +] and [+ - - - - + +] were associated with low G gamma. Variation in haematological data, mainly MCV and MCH values, was found to be caused in part by the type of beta-thalassaemia (defined by its haplotype) and by the presence of an additional alpha-thalassaemia-2 heterozygosity or homozygosity. |
| Databáze: | OpenAIRE |
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