The 12.6 kilobase DNA deletion in Dutch beta zero-thalassaemia.

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 Haematol

authors

Gilman JG

doi

10.1111/j.1365-2141.1987.tb02360.x

subject

Has Abstract

pub_date

1987-11-01 00:00:00

pages

369-72

issue

3

eissn

0007-1048

issn

1365-2141

journal_volume

67

pub_type

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