| PAH基因外显子7上一个中性突变的鉴定 |
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| 引用本文： | 马继红,黄尚志,李少英,李月秋,罗佳滨. PAH基因外显子7上一个中性突变的鉴定[J]. 黑龙江医药科学, 1997, 0(5) |
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| 作者姓名： | 马继红 黄尚志 李少英 李月秋 罗佳滨 |
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| 作者单位： | 佳木斯医学院生物教研室，中国医学科学院基础所遗传室，佳木斯医学院生物教研室，佳木斯医学院生物教研室，佳木斯医学院生物教研室 |
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| 摘 要： | 应用单链构型多态(Single strand conformation polymorphism,SSCP)分析技术检测了苯丙酮尿症患者的苯丙氨酸羟化酶基因外显子7,其中一例样品含突变泳带,经直接测序结果发现在密码子245上有一个碱基替换,由 G—A,但氨基酸未发生改变,为一例中性突变。
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| 关 键 词： | 苯丙酮尿症 苯丙氨酸羟化酶 中性突变 |
Detection of a silent mutation in exon 7 of the phenylalanine hydroxylase gene |
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| Ma Jihong. Detection of a silent mutation in exon 7 of the phenylalanine hydroxylase gene[J]. Heilongjiang Medicine and Pharmacy, 1997, 0(5) |
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| Authors: | Ma Jihong |
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| Abstract: | The exon 7 of the phenylalanine hydroxylase gene was detected by single strand conformation polymorphism(SSCP)analysis in 23 patients with phenylketonuria.One sample displayed abnormal patterns,which had a base transition of G to A at code 245 by direct sequencing.The mutation was a silent mutation which didn't change the encoded amino acid. |
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| Keywords: | phenylketonuria phenylalanine hydroxylase silent mutation |
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