(Aγδβ)°‐Thalassaemia in Blacks is due to a deletion of 34 kbp of DNA
- 1 February 1985
- journal article
- research article
- Published by Wiley in British Journal of Haematology
- Vol. 59 (2) , 343-356
- https://doi.org/10.1111/j.1365-2141.1985.tb02999.x
Abstract
DNA from members of 10 Black families with conditions considered to be G.gamma.(.delta..beta.).degree.-thalassemia or G.gamma.(.delta..beta.).degree.-HPFH [hereditary persistence of fetal Hb] were studied by using restriction enzyme analysis. One or more affected members from each family were shown to have the same deletion of 34 kbp [kilobase pairs] or DNA in the human .beta.-globin gene cluster. A clone spanning the deletion was isolated from the DNA of 1-such person and studied in detail. The deletion removed part of the A.gamma. and all of the .psi..beta., .delta. and .beta.-globin genes and is different from the 4 previously identified deletions which caused a condition presently known as (A.gamma..delta..beta.).degree.-thalassemia.This publication has 38 references indexed in Scilit:
- Restriction endonuclease gene mapping studies of an Indian (Aγδβ)°-thalassaemia, previously identified asGγ-HPFHBritish Journal of Haematology, 1984
- (Aγδβ)° thalassaemia: similarity of phenotype in four different molecular defects, including one newly describedBritish Journal of Haematology, 1984
- Dutch β°‐thalassaemia: a 10 kilobase DNA deletion associated with significant γ‐chain productionBritish Journal of Haematology, 1984
- KpnI families of long, interspersed repetitive DNAs associated with the human β-globin gene clusterGene, 1982
- Major rearrangement in the human β-globin gene clusterNature, 1981
- Recent advances in the quantitation of human fetal hemoglobins with different gamma chainsAmerican Journal of Hematology, 1980
- Heterogeneity in the molecular basis of hereditary persistence of fetal haemoglobinNature, 1980
- Polymorphism of DNA Sequence in the β-Globin Gene RegionNew England Journal of Medicine, 1980
- DNA sequence variants in the Gγ-, Aγ-, δ- and β-globin genes of manCell, 1979
- Deletion of the A gamma-globin gene in G gamma-delta beta-thalassemia.Journal of Clinical Investigation, 1979