| 联合应用STR连锁分析与多重等位基因特异PCR进行PKU基因诊断 |
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| 引用本文： | 吴冠芸.联合应用STR连锁分析与多重等位基因特异PCR进行PKU基因诊断[J].中华医学遗传学杂志,1997,14(1):9-12. |
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| 作者姓名： | 吴冠芸 |
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| 作者单位： | 首都儿科研究所，中国医学科学院基础医学研究所 |
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| 基金项目： | 北京市卫生局科研基金项目，美国CMB基金 |
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| 摘 要： | 应用ＰＣＲ结合银染色显色法分析了苯丙氨酸羟化酶基因内含子３中１个四核苷酸（ＴＣＴＡ）重复序列的多态性，结果表明：在５２例正常人和２３个ＰＫＵ家系中检测到９种等位基因片段，从２２４～２５６ｂｐ连续分布，其中２２４ｂｐ等位片段第１次在中国人群中被检测到，多态信息量（ＰＩＣ）分别为０．６５４和０．７３０。同时分析了ＳＴＲ多态性与多重等位基因特异ＰＣＲ（ＭＡＳＰＣＲ）在ＰＫＵ基因诊断中的联合应用，结果表明
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| 关 键 词： | 苯酮尿症 短串联重复序列 多态性 聚合酶链反应 |
APPLICATION OF STR LINKAGE ANALYSIS AND MULTIPLEX ALLELE SPECIFIC PCR IN PKU GENETIC DIAGNOSIS |
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| Song Fang,Wu Guanyun,Xu Guangzhi,et al..APPLICATION OF STR LINKAGE ANALYSIS AND MULTIPLEX ALLELE SPECIFIC PCR IN PKU GENETIC DIAGNOSIS[J].Chinese Journal of Medical Genetics,1997,14(1):9-12. |
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| Authors: | Song Fang Wu Guanyun Xu Guangzhi |
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| Institution: | Song Fang,Wu Guanyun,Xu Guangzhi,et al. Capital Institute of Pediatrics,Beijing 100020 |
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| Abstract: | A polymorphic tetranucleotide short tandem repeat (STR) sequence in intron 3 of the phenylalanine hydroxylase (PAH) gene was analysed in 52 normal individuals and 23 Phenylketonuria (PKU) families by PCR amplification and silver staining. Nine alleles were identified, with a continuous distribution from the smallest (224bp) to the largest (256bp). The smallest allele(224bp) was first detected in Chinese population. The polymorphism information content was 0.654 in normal population and 0.730 in PKU families. United application of STR linkage analysis and multiplex allele specific PCR(MASPCR) in PKU genetic diagnosis was also analysed. It was an effective, simple and available procedure. The prenatal diagnosis of two fetuses at risk were performed by using this procedure. |
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| Keywords: | Phenylketonuria Short tandem repeat sequence Polymerase chain reaction Prenatal diagnoses |
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