| 苯丙氨酸羟化酶基因内点突变的检测与分析 |
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| 引用本文： | 魏丽珠,伏洁,王晓燕,刘光陵.苯丙氨酸羟化酶基因内点突变的检测与分析[J].医学研究生学报,1997(3). |
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| 作者姓名： | 魏丽珠 伏洁 王晓燕 刘光陵 |
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| 作者单位： | 南京军区南京总医院儿科!南京210002 |
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| 摘 要： | 目的 为了检测江苏省地区苯丙酮尿症 ( phenylketonuria,PKU)患者血苯丙氨酸羟化酶 ( phenylanine hydroxylase,PAH)基因内突变点及其对 PKU致病的相关性 ,从分子水平上提高诊断率。 方法 :采用了 4对引物 ,外显子 4、7、11( E4、E7、E11)及 STR,应用多聚酶链反应单链构象多态 ( PCR- SSCP)银染技术检测分析了 6个 PKU家系共 2 1个成员。 结果 :2 1例检测样品中 1个家系 4位成员测出 E4存在基因突变 ,父母为不同的点突变的携带者 ,子女为遗传复合体。 结论 :为该家系的产前诊断提供了遗传标志
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| 关 键 词： | 苯丙酮尿症 苯丙氨酸羟化酶 突变基因 聚合酶链反应 |
Identification of PAH gene point mutation in patients with PKU |
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| Wei L izhu,Fu Jie,Wang Xiaoyan etal.Identification of PAH gene point mutation in patients with PKU[J].Bulletin of Medical Postgraduate,1997(3). |
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| Authors: | Wei L izhu Fu Jie Wang Xiaoyan etal |
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| Institution: | Wei L izhu,Fu Jie,Wang Xiaoyan etal Department of Pediatrics,Jinling H ospital |
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| Abstract: | Objectives:To improve the diagnosis rate of PKU,molecular technique was applied to detect PHA gene point mutations in PKU patients in Jiangsu Province. Meth- ods:Twenty- one members from6 families were analysed by PCR- SSCP silver staining using 4pairs of primers including exon47,1 1 and STR. Results:Of the2 1 cases,E4mutation was found in 4members from 1 family,the parents with different point mutations and the children with hereditary complex respectively. Conclusions:E4mutations may become a genetic marker for prenatal diagnosis of PKU. |
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| Keywords: | Phenylketonuria Phenylalanine hydroxylase Gene mutation Polymerase chain reaction |
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