Two independent gamma delta beta-thalassemias are each associated with large deletions. We show, by comparing DNA sequences, that the deletions are due to non-homologous DNA exchanges. The 5' breakpoints are located approximately the same distance apart and in the same order along the DNA as their 3' breakpoints. Two independent cases of hereditary persistence of fetal hemoglobin, also involving large deletions, show the same unexpected relationship between their 5' and 3' breakpoints. This relationship is most simply explained if, within each pair, the deletions are of approximately the same length. The results suggest that the four deletions were generated by a common mechanism. Perhaps their 5' and 3' breakpoints are physically close in the nucleus, although far apart on the linear DNA.

0 (Chromatin), 9004-22-2 (Globins), Base Sequence, Chromatin/ultrastructure, Chromosome Deletion, Chromosome Mapping, Globins/genetics, Human, Support, Non-U.S. Gov't, Support, U.S. Gov't, P.H.S., Thalassemia/genetics
hdl.handle.net/1765/2368
Cell
Erasmus MC: University Medical Center Rotterdam

Vanin, E, Henthorn, P, Kioussis, D, Grosveld, F.G, & Smithies, O. (1983). Unexpected relationships between four large deletions in the human β-globin gene cluster. Cell, 35, 701–709. Retrieved from http://hdl.handle.net/1765/2368