Abstract:
:The Dutch beta zero-thalassaemia has few clinical symptoms in homozygotes, elevated fetal haemoglobin (4-11%) in heterozygotes, and has a DNA deletion previously estimated as 10 kb which removes the beta-globin gene (Gilman et al, 1984). A DNA fragment containing the breakpoints of the Dutch beta zero-thalassaemia deletion has now been cloned. Sequencing across the deletion junction region showed the 3' endpoint to be about 3 kb further 3' than originally thought, so that the deletion covers 12.6 kb. The 3' endpoint lies in a region of Kpn I (L1) repeated sequences, which is also the case for several other deletions. A six bp region of homology (AAATTT) between the 5' and 3' normal sequences at the breakpoint may have contributed to the non-homologous recombination event that led to the Dutch beta zero-thalassaemia deletion. The 12.6 kb Dutch beta zero-thalassaemia deletion is now seen to be a member of a 12-13 kb size category of deletions which also includes two delta beta-thalassaemias.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Gilman JGdoi
10.1111/j.1365-2141.1987.tb02360.xsubject
Has Abstractpub_date
1987-11-01 00:00:00pages
369-72issue
3eissn
0007-1048issn
1365-2141journal_volume
67pub_type
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