| 应用DNA PCR法扩增检测苯丙酮尿症基因突变 |
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| 引用本文： | 高艳娥,赵淑錱,黄尚志.应用DNA PCR法扩增检测苯丙酮尿症基因突变[J].西安交通大学学报(医学版),1990(4). |
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| 作者姓名： | 高艳娥 赵淑錱 黄尚志 |
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| 作者单位： | 西安医科大学第二附属医院妇产科学教研室
(高艳娥，赵淑錱)，中国医学科学院基础医学研究所医学遗传研究室(黄尚志) |
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| 摘 要： | 本文应用PCR和核酸杂交技术,在西安地区14例PKU患儿中检测了目前中国人中唯一确定引起PKU的PAH基因外显子3终止突变,结果发现这些患者的PAH基因均无终止突变,提示在我国有可能因PAH基因其它部位突变导致PKU的发生。我们体会DNA体外PCR扩增结合寡核苷酸探针点杂交方法可用于PKU的产前诊断和携带者检出。
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| 关 键 词： | PCR扩增 寡核苷酸探针 点突变 苯丙酮尿症 |
SCREENING FOR PHENYLKETONURIA GENE MUTATION BY DNA AMPLIFICATION WITH THE POLYMERASE CHAIN REACTION |
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| Gao Yah''''e,Zhao Shuzhen,Huang Shangzhi,et al.SCREENING FOR PHENYLKETONURIA GENE MUTATION BY DNA AMPLIFICATION WITH THE POLYMERASE CHAIN REACTION[J].Journal of Xi‘an Jiaotong University:Medical Sciences,1990(4). |
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| Authors: | Gao Yah'e Zhao Shuzhen Huang Shangzhi |
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| Abstract: | Exon 3 termination mutation of phenylalanine hydroxylase (PAH) gene, the only identified one causing classical phenylketonuria (PKU) in Chinese, was detected in fourteen PKU children from Xi'an. The genomic DNA from these patients was amplified by polymerase chain reaction(PCR) and dot hybridied with specific oligonucleotide probes. This mutation is not present in any of these affected children, which indicates that phenylketonuria in Chinese may be caused by other mutations in phenylalanine hydroxylase locus. PCR amplification combining with oligonucleotide dot hybridization is technically feasible for prenatal diagnosis and carrier screening for PKU. |
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| Keywords: | PCR amplification oligonucleotide probes point mutation phenylketonuria |
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