title: Identification of novel Asian Indian and Japanese mutations causing beta-thalassaemia in the Egyptian population.
abstract: beta-thalassaemia is a major health problem in Egypt. It has been estimated that of the 1.5 million live births. 1000 children with beta-thalassaemia major are born annually. Although the available treatment has increased the life expectancy of patients, it is still unsatisfactory and represents a significant drain on the country's resources. National screening and prenatal diagnosis programmes can be provided in Egypt once the spectrum of beta-thalassaemia mutations has been identified within the Egyptian population. We have examined 16 DNA samples with 21 beta-thalassaemia mutations that remained unidentified in a study of 54 patients reported by Rady and colleagues in 1996. Using the polymerase chain reaction and single strand conformation analysis we identified the following changes: frameshift (FS) codon (CD) 8/9 (+G), 4 FS CD 29 (-G) and 2 novel mutations in exon I (15 CD 22 A-C and 1 FS CD 28 -C). In addition, a silent, probably polymorphic mutation, CD 17 G-A was present in all chromosomes.
authors.affiliation: Human Genetics Group, Galton Laboratory, University College London, UK.
authors.forename: N
authors.initials: N
authors.lastname: el-Hashemite
authors.forename: M
authors.initials: M
authors.lastname: Petrou
authors.forename: A S
authors.initials: AS
authors.lastname: Khalifa
authors.forename: N M
authors.initials: NM
authors.lastname: Heshmat
authors.forename: M S
authors.initials: MS
authors.lastname: Rady
authors.forename: J D
authors.initials: JD
authors.lastname: Delhanty
mesh_terms: D004252:DNA Mutational Analysis; D004534:Egypt; D006801:Humans; D007194:India; D007564:Japan; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017086:beta-Thalassemia / Q000235:genetics*