title: The use of real-time PCR technique in the detection of novel protein 4.2 gene mutations that coexist with thalassaemia alpha in a single patient.
abstract: Alpha-thalassaemia is a very rare disease in Northern Europe in contrast to hereditary spherocytosis that is associated with red blood cell membrane defects. We report here alpha-thalassaemia case who was also found to bear the erythrocyte membrane protein 4.2 gene mutations. mRNA relative quantification of red cell membrane protein genes in a Polish patient with alpha-thalassaemia trait indicated EPB42 as the gene that could also be involved in anaemia pathogenesis. Sequencing revealed the presence of two novel mutations in the protein 4.2 gene: a G1701A genetic change that predicts an alanine to threonine at position 567 of the protein (A567T) and a T-->A substitution that is located at position +6 of the donor splice site of intron 2 (IVS2nt+6T>A). This is the sixth variant of the erythrocyte membrane protein 4.2 gene mutations identified outside the Japanese population.
authors.affiliation: Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Pawinskiego 5A, Warsaw, Poland.
authors.forename: Monika
authors.initials: M
authors.lastname: Maciag
authors.forename: Anna
authors.initials: A
authors.lastname: Adamowicz-Salach
authors.forename: Alicja
authors.initials: A
authors.lastname: Siwicka
authors.forename: Justyna
authors.initials: J
authors.lastname: Spychalska
authors.forename: Beata
authors.initials: B
authors.lastname: Burzynska
mesh_terms: D000293:Adolescent; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004910:Erythrocyte Membrane / Q000737:chemistry; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D012333:RNA, Messenger / Q000032:analysis; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; D012333:RNA, Messenger; C044791:erythrocyte membrane band 4.2 protein