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A novel rearrangement of the human fetal globin genes leading to a six gamma-globin gene haplotype.
- Source :
-
British journal of haematology [Br J Haematol] 2002 Feb; Vol. 116 (2), pp. 454-7. - Publication Year :
- 2002
-
Abstract
- Haematological as well as gene mapping data are reported for three members of a Portuguese Caucasian family with high G(gamma)-globin levels. A gamma-globin gene sextuplication of the G(gamma)AG(gamma)AG(gamma)AG(gamma)AG(gamma)A(gamma) type was present in the proband and her father. Comparison of gene mapping data with quantitative results of fetal haemoglobin (HbF) analysis provided an explanation for the extremely high G(gamma)-globin levels (> 90%) in the HbF from the two mentioned individuals. This rearrangement, for which a generation mechanism is proposed, is the first gamma-globin gene sextuplication described in the literature.
Details
- Language :
- English
- ISSN :
- 0007-1048
- Volume :
- 116
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- British journal of haematology
- Publication Type :
- Academic Journal
- Accession number :
- 11841451