| 苯丙酮尿症患者突变基因的检测 |
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| 引用本文： | 魏丽珠,刘光陵,张仙球. 苯丙酮尿症患者突变基因的检测[J]. 东南国防医药, 1999, 0(1) |
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| 作者姓名： | 魏丽珠 刘光陵 张仙球 |
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| 作者单位： | 南京总医院，南京总医院，南京总医院 南京 210002，南京 210002，南京 210002 |
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| 摘 要： | 目的 检测苯丙酮尿症(phenyl—ketonuria,简称PKU)患者的基因突变类型。方法采用PCR-SSCP(聚合酶链反应单链构象多态)银染和PCR-ASO(聚合酶链反应等位基因特异性寡核苷酸)探针杂交,分别检测了8个PKU家庭中10名患者和6名双亲。PCR—SSCP银染应用了3对引物,外显子7、11、12。PCR-ASO探针杂交应用了外显子7、10、11、12、4对探针。结果 王氏家系姐弟俩(表1中编号7,10)通过PCR-SSCP方法发现E_7区域有异常电泳带,经PCR-ASO方法证实他们和附图编号8均为苯丙氨酸羟化酶E7R243Q位点的纯合子突变;沈氏家系姐妹俩通过PCR-ASO法检出E12R413P位点为纯合子突变,另一例PKU患者为E12R413P位点的杂合子。结论 上述突变位点为PKU患者的产前基因诊断提供了依据。
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| 关 键 词： | 苯丙酮尿症 苯丙氨酸羟化酶基因 PCR-SSCP(聚合酶反应-单链构象多态性) PCR-ASO(聚合酶链反应-寡核苷酸探针) |
Detection of mutation gene in patients with PKU |
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| Wei Lizhu,Liu Gugangling,Zhang Xianqiu Nanjing General Hospital of PLAWanjing,). Detection of mutation gene in patients with PKU[J]. Journal of Southeast China National Defence Medical Science, 1999, 0(1) |
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| Authors: | Wei Lizhu Liu Gugangling Zhang Xianqiu Nanjing General Hospital of PLAWanjing ) |
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| Affiliation: | Wei Lizhu,Liu Gugangling,Zhang Xianqiu Nanjing General Hospital of PLAWanjing,210002) |
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| Abstract: | To determine mutation gene of patients with PKU. Methods 10 patients and 6 parents from 8 families were examined with PCR-SSCP,PCR-ASO technique including primers of exon 7,11,12 and probes of exon 7,10,11,12. Results E7 abnormal electrophoretic mobility was found in two siblings from one family by PCR-SSCP. It watsdemonstrated that two siblings and another patient were homozygotes of exon 7 (R243Q) by PCR-ASO. Homozygotes E12(R413P)locus mutation were found in two siblings from another family and heterozygote was found in another patient. Conclusion E7(R243Q)and E12 (R413P)locus mutations may become a genetic mark for diagnosis of PKU. |
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| Keywords: | pheylketonunia Phenylalanine hydroxylase PCR-SSCP(polymerase chain reaction-single strand conformation polymorphism) PCR-ASO(polymerase chain reaction-allele specific oligonucleotide) |
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