PCR-SSCP分析结合直接测序检测β-地中海贫血患者基因突变型

蔡辉国,吴志奎,陈佩贞,黄有文,王荣新

中国生物化学与分子生物学报 ›› 1997, Vol. 13 ›› Issue (01) : 116-118.

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PDF(162 KB)
中国生物化学与分子生物学报 ›› 1997, Vol. 13 ›› Issue (01) : 116-118.
论文

PCR-SSCP分析结合直接测序检测β-地中海贫血患者基因突变型

  • 蔡辉国,吴志奎,陈佩贞,黄有文,王荣新
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Detection of Mutation Types in β-Thalassemia Patients by SSCP Analysis and Direct Sequencing

  • Cai Hui-Guo; Wu Zhi-Kui; Chen Pei-Zhen; Huang You-Wen; Wang Rong-Xin
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Abstract

Three mutative types of β-globin gene in 10 patients with β-thalassemia were detectedby PCR-SSCP analysis and direct sequencing. Among them, allo-double heterozygote mutation appeared in two patients. The frequencies of false negative and false positive results occurred in PCRSSCP analysis were observed at the same time, and the experiences to avoid false results were discussed.

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蔡辉国,吴志奎,陈佩贞,黄有文,王荣新. PCR-SSCP分析结合直接测序检测β-地中海贫血患者基因突变型[J]. 中国生物化学与分子生物学报, 1997, 13(01): 116-118
Cai Hui-Guo; Wu Zhi-Kui; Chen Pei-Zhen; Huang You-Wen; Wang Rong-Xin. Detection of Mutation Types in β-Thalassemia Patients by SSCP Analysis and Direct Sequencing[J]. Chinese Journal of Biochemistry and Molecular Biology, 1997, 13(01): 116-118

参考文献

1张学,孙开来综述国外医学遗传学分册,1995,(5):225~231 2 Hayshi K GATA 1992,9:73~79 3金冬雁,黎孟枫,等译分子克隆实验指南,第2版北京:科学出版社,1992 4蔡辉国,陈枫贞,等生物化学与生物物理进展,1995,22:473~475
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