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.
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Authors | Yun-Sheng Peng, Shun-Chang Sun, Qun-Rong Chen, Qing Wang, Bao-Mei Mo |
Journal | Zhongguo 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 |
PMID | 22541107
(Publication Type: Case Reports, English Abstract, Journal Article, Research Support, U.S. Gov't, Non-P.H.S.)
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Chemical References |
- RNA Splice Sites
- beta-Globins
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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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