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The 12.6 kilobase DNA deletion in Dutch β°‐thalassaemia
Author(s) -
Gilman John G.
Publication year - 1987
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1987.00369.x
Subject(s) - breakpoint , genetics , biology , homology (biology) , dna , microbiology and biotechnology , gene , thalassemia , dna sequencing , chromosome
Summary The Dutch β°‐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 β‐globin gene (Gilman et al , 1984). A DNA fragment containing the breakpoints of the Dutch β°‐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 (LI) 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 β°‐thalassaemia deletion. The 12.6 kb Dutch β°‐thalassaemia deletion is now seen to be a member of a 12–13 kb size category of deletions which also includes two δβ‐thalassaemias.