title: [A novel mutation in β-globin gene of a patient with β-thalassemia].
abstract: This study was aimed to analyze the β-globin gene mutations in a patient with β-thalassemia minor. Genomic DNA was extracted from peripheral blood cells of the patient. The full-length DNA sequence coding for β-globin was amplified by polymerase chain reaction, and the gene mutation was determined by DNA sequencing. The results indicated that a heterogeneous A→G mutation was found at position 129 in intron 1 of the β-thalassemia minor patient. It is concluded that the IVS-I-129(A→G) mutation is a splicing site mutation leading to a splicing error in immature messenger RNA and a protein translation error for the β-globin gene. Thus, the IVS-I-129(A→G) is a novel mutation.
authors.affiliation: Department of Clinical Laboratorial Examination, Baoan People Hospital, Shenzhen, China.
authors.forename: Yun-Sheng
authors.initials: YS
authors.lastname: Peng
authors.forename: Shun-Chang
authors.initials: SC
authors.lastname: Sun
authors.forename: Qun-Rong
authors.initials: QR
authors.lastname: Chen
authors.forename: Qing
authors.initials: Q
authors.lastname: Wang
authors.forename: Bao-Mei
authors.initials: BM
authors.lastname: Mo
mesh_terms: D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007438:Introns; D017354:Point Mutation; D014176:Protein Biosynthesis; D022821:RNA Splice Sites; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D022821:RNA Splice Sites; D055544:beta-Globins