| 苯丙氨酸羟化酶基因内短串联重复序列多态性应用分析 |
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| 引用本文： | 宋力,孟英韬.苯丙氨酸羟化酶基因内短串联重复序列多态性应用分析[J].天津医药,1998,26(3):149-151. |
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| 作者姓名： | 宋力 孟英韬 |
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| 作者单位： | 天津市儿童医院儿科研究所
300074(宋力，孟英韬，高文英，徐风铎)，天津市儿童医院儿科研究所 300074(单忠敏) |
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| 摘 要： | 采用苯丙氨酸羟化酶基因内短串联重复序列扩增片段长度多态性连锁分析法，对２２个苯丙酮尿症家系进行了分析。结果显示；２２个ＰＫＵ患者的家庭均能获得多态信息，其中能获得１００％多态信息的有９个家庭，占分析对象的４０．９％。该方法快速简便，对未知基因突变的ＰＫＵ家系的前前诊断提供了可能性，达到了快速基因诊断的目的。
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| 关 键 词： | 苯丙酮尿症 聚合酶链反应 多态现象 PKU |
Application of Short Tandem Repeats in Intron 3 of Phenylalanine Hydroxylase Gene for PKU Families |
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| Song Li,Meng Yingtao,Gao Wenying,et al Pediatric Research Institute,Tianjin Children's Hospital.Application of Short Tandem Repeats in Intron 3 of Phenylalanine Hydroxylase Gene for PKU Families[J].Tianjin Medical Journal,1998,26(3):149-151. |
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| Authors: | Song Li Meng Yingtao Gao Wenying Pediatric Research Institute Tianjin Children's Hospital |
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| Institution: | Song Li,Meng Yingtao,Gao Wenying,et al Pediatric Research Institute,Tianjin Children's Hospital 300074 |
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| Abstract: | The short tandem repeats (STR) in intron 3 of phenylalanine hydroxylase gene were analyzed in 22 phenylketonuria ( PKU ) families by linkage analysis of amplified-fragment length polymorphism. The results showed that all families obtained the information of polymorphism from the STR fragment. This experiment is rapid and easy to do. It provides the possibility of prenatal gene diagnosis for PKU families of unknown mutation. |
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| Keywords: | phenylketonuria phenylalanine hydroxylase polymerase chain reaction polymorphism (genetics) linkage (genetics) |
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