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FIRST DESCRIPTION OF A FRAMESHIFT MUTATION IN THE α 1 ‐GLOBIN GENE ASSOCIATED WITH α‐THALASSAEMIA
Author(s) -
Ayala Sonia,
Colomer Dolors,
Aymerich Marta,
Abella Eugenia,
Vives Corrons Joan Lluís
Publication year - 1997
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 - 10.1046/j.1365-2141.1997.1822999.x
Subject(s) - frameshift mutation , mutation , genetics , hemoglobinopathy , globin , gene , thalassemia , medicine , biology , hemolytic anemia
A frameshift mutation in the α 1 ‐globin gene, responsible for a clinically mild α‐thalassaemia phenotype, has been characterized in a Spanish woman. After excluding the most common forms of α‐thalassaemia found in the Mediterranean area, both α‐globin genes (α 1 and α 2 ) were amplified and analysed selectively by non‐radioactive single‐strand conformation polymorphism (SSCP). An abnormal SSCP mobility was present in the second exon of the α 1 ‐globin gene and direct sequence analysis revealed a 13 bp deletion (between codons 51 and 55) affecting a single allele. The consequence of this mutation is a reading frameshift leading to a novel amino acid coding sequence from codons 51–61 and a premature stop signal at new position 62, which results in a net reduction of the affected α‐globin chain output. The presence of this new mutation was confirmed by restriction enzyme analysis of the specific PCR product.