THE DELETION IN BOTH COMMON TYPES OF HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN IS APPROXIMATELY 105 KILOBASES
- 1 December 1987
- journal article
- research article
- Vol. 70 (6) , 1797-1803
Abstract
The most common forms of hereditary persistence of fetal hemoglobin (HPFH) involve large deletions that remove the adult .delta. and .beta. genes but leave the paired fetal genes (G.gamma. and A.gamma.) intact. The size of these deletions has previously eluded exact definition. Using pulsed-field gel electrophoresis and the enzyme Sfil, which cuts only rarely in genomic DNA, we have constructed a large-scale restriction map of the .beta.-globin cluster in normal and HPFH DNA. The deletions in HPFH-1, which occurs in American blacks, and in HPFH-2, which occurs in Ghanaian blacks, are found to be approximately 105 kilobases (kb) in length, though the endpoints are staggered by approximately 5 kb. The fact that two previously reported .gamma..delta..beta.-thalassemia deletions to the 5'' side of the .beta.-globin cluster are also about 100 kb suggests a common mechanism, possibly involving the loss of a complete chromatin loop.This publication has 23 references indexed in Scilit:
- Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresisCell, 1984
- Unexpected relationships between four large deletions in the human β-globin gene clusterCell, 1983
- Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man.Proceedings of the National Academy of Sciences, 1983
- Nonrandom distribution of repeated DNA sequences with respect to supercoiled loops and the nuclear matrix.Proceedings of the National Academy of Sciences, 1982
- Heterogeneity of DNA deletion in gamma delta beta-thalassemia.Journal of Clinical Investigation, 1981
- A fixed site of DNA replication in eucaryotic cellsCell, 1980
- Characterisation of deletions which affect the expression of fetal globin genes in manNature, 1979
- Eucaryotic DNA: Organization of the genome for replicationCell, 1978
- The structure of histone-depleted metaphase chromosomesCell, 1977
- On the mechanism of DNA replication in mammalian chromosomesJournal of Molecular Biology, 1968