Abstract | OBJECTIVE: To develop a PCR-temperature gradient gel electrophoresis(TGGE) method applied to screening for the point mutations causing the non-deletion alpha-thalassemia. METHODS: The entire alpha2-globin gene fragment (1085 bp) was selectively amplified from human genomic DNA with different genotypes of alpha-thalassemia and a 543 bp fragment spanning the exon 2 and exon 3 of the alpha2-globin gene was amplified with a pair of nested primers. The condition of perpendicular and parallel TGGE for the two different fragments in length was optimized and the candidate mutant was confirmed by DNA sequencing. In pilot study, 15 samples with suspected non-deletion alpha-thalassemia were screened for point mutations in alpha-globin gene. RESULTS: CONCLUSION: The present PCR-TGGE method could be a useful tool for the molecular screening for the point mutations causing alpha-thalassemia and alpha-globin gene polymorphism.
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Authors | Y Zhao, X Xu, Y Yang |
Journal | Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
(Zhonghua Yi Xue Yi Chuan Xue Za Zhi)
Vol. 18
Issue 1
Pg. 51-5
(Feb 2001)
ISSN: 1003-9406 [Print] China |
PMID | 11172644
(Publication Type: English Abstract, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Electrophoresis
- Globins
(genetics)
- Humans
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Temperature
- alpha-Thalassemia
(genetics)
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