| 苯丙酮尿症的基因诊断 |
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| 引用本文： | 贺文萍,张乾忠,张新生,王淑兰,山下启子,香川昌平,松冈瑛.苯丙酮尿症的基因诊断[J].中国儿童保健杂志,1997(1). |
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| 作者姓名： | 贺文萍 张乾忠 张新生 王淑兰 山下启子 香川昌平 松冈瑛 |
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| 作者单位： | 中国医科大学第一临床医学院!沈阳110001(贺文萍，张乾忠，张新生，王淑兰)，日本兵库医科大学中央检查部(山下启子，香川昌平，松冈瑛) |
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| 摘 要： | 应用生物素—链抗生物素蛋白系统的固相技术,对PCR扩增后DNA片段进行直接顺序分析,检测了东北地区13例经典型PKU患者PAH基因点突变.结果表明;13例PKU患者中检出7种点突变,发现7种PAH基因突变组合类型,其中突变R243Q、R413P、Y204C和R111X是分别位于PAH基因第7、12、6和3外显子处的4种常见突变.本研究准确可靠地确定了PAH基因分子缺陷的遗传机理,为该疾病的基因诊断和基因治疗提供了科学依据.
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| 关 键 词： | 苯丙酮尿症 苯丙氨酸羟化酶基因 点突变 基因诊断 |
Gene Diagnosis of Phenylketonuria |
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| He Wenping,Shanxiaqizi,Zhang Qianzhong etal.Gene Diagnosis of Phenylketonuria[J].Chinese Journal of Child Health Care,1997(1). |
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| Authors: | He Wenping Shanxiaqizi Zhang Qianzhong etal |
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| Institution: | He Wenping,Shanxiaqizi,Zhang Qianzhong etal. Department of Pediatrics. The First Clinical Collage of China Medical University,Shengyang 110001 |
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| Abstract: | Direct sequencing was conducted on DNA fragments amplified by the poly-merase chain reaction, using solid phase technology involving the biotion-streptaviin system, we detected PAH gene point mutations in 13 PKU patients of north China. The results showed that seven PAH gene point mutations and seven kinds of mutant types were found in 13 cases. The mutations of R243Q,R413P,Y204C and R111X were most common mutations respectively located in exon 7, 12, 6 and 3 of the PAH gene. This study determined genetic mechanism of molecular defect in PAH gene correctly and reliably, the results provided scientific evidence for gene diagnosis and treatment of PKU. |
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| Keywords: | Phenylketonuria Phenylalanine hydroxylase gene Mutation point Gene diagnosis |
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