title: Identification of three rare beta-thalassemia mutations in the Pakistani population.
abstract: Three rare beta-thalassemia mutations, not reported previously in Asian Indians or the Pakistani population, were identified by single strand conformation polymorphism analysis followed by direct sequencing. Two mutations, IVS-II-848 (C-->A) and initiation codon (ATG-->ACG), were found in the homozygous condition in patients belonging to Balochi and Sindhi ethnic groups of Pakistan, together with heterozygous and homozygous alpha(-3.7) deletions, respectively. A frameshift mutation at codon 44 (-C) was identified in a patient belonging to the Gujrati ethnic group together with IVS-I-1 (G-->T) and a normal complement of four a-globin genes. Haplotype analysis was performed to identify the chromosomal background associated with these mutations, and for tracing the origin and spread of these mutations.
authors.affiliation: Centre for Applied Molecular Biology, University of the Punjab Thokar Niaz Baig, Lahore, Pakistan. direct@paknet4.ptc.pk
authors.forename: S N
authors.initials: SN
authors.lastname: Khan
authors.forename: S
authors.initials: S
authors.lastname: Riazuddin
authors.forename: R
authors.initials: R
authors.lastname: Galanello
mesh_terms: D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D005820:Genetic Testing; D006239:Haplotypes; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D010154:Pakistan / Q000453:epidemiology / Q000208:ethnology; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017086:beta-Thalassemia / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal