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A novel polyadenylation signal mutation in the α 2 ‐globin gene causing α thalassaemia
Author(s) -
Harteveld C. L.,
Losekoot M.,
Haak H.,
Heister J. G. A. M.,
Giordano P. C.,
Bernini L. F.
Publication year - 1994
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.1365-2141.1994.tb04883.x
Subject(s) - polyadenylation , mutation , genetics , gene , biology , microbiology and biotechnology , phenotype , compound heterozygosity , sequence (biology) , gene expression
Summary. In a family of Indian origin we have identified a deletion of two bases at the polyadenylation signal sequence of the α 2 ‐globin gene (AATAAA AATA). Three individuals heterozygous for this mutation display an α o ‐thalassaemialike phenotype. Single‐stranded conformation analysis and automatic sequencing showed no additional mutations in either α 1 ‐ or α 2 ‐globin genes. A previously described polyadenylation sequence mutation (AATAAA AATAAG), α TSaudi α, causes HbH disease in homozygotes. In this study the patients heterozygous for the AATA(‐AA) mutation show a similar phenotype observed in the α TSaudi α heterozygotes. This confirms the observation that the inefficient transcriptional termination due to mutations of the polyadenylation sequence of the α 2 ‐gene might interfere with the α 1 ‐gene expression.