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[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.
AuthorsYun-Sheng Peng, Shun-Chang Sun, Qun-Rong Chen, Qing Wang, Bao-Mei Mo
JournalZhongguo shi yan xue ye xue za zhi (Zhongguo Shi Yan Xue Ye Xue Za Zhi) Vol. 20 Issue 2 Pg. 398-400 (Apr 2012) ISSN: 1009-2137 [Print] China
PMID22541107 (Publication Type: Case Reports, English Abstract, Journal Article, Research Support, U.S. Gov't, Non-P.H.S.)
Chemical References
  • RNA Splice Sites
  • beta-Globins
Topics
  • Adult
  • Base Sequence
  • DNA Mutational Analysis
  • Female
  • Humans
  • Introns
  • Point Mutation
  • Protein Biosynthesis
  • RNA Splice Sites
  • beta-Globins (genetics)
  • beta-Thalassemia (genetics)

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