| Peutz-Jeghers综合征一家系的STK11基因的突变研究 |
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| 引用本文： | 卢泽军,崔勇,杜文辉,方巧云,周伏圣,刘建军,杨森,张学军. Peutz-Jeghers综合征一家系的STK11基因的突变研究[J]. 疾病控制杂志, 2008, 12(2): 115-117 |
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| 作者姓名： | 卢泽军 崔勇 杜文辉 方巧云 周伏圣 刘建军 杨森 张学军 |
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| 作者单位： | 安徽医科大学第一附属医院皮肤性病科,安徽医科大学皮肤病研究所,教育部重要遗传病基因资源利用重点实验室(省部共建),安徽,合肥,230032 |
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| 基金项目： | 安徽省科技厅重点实验室经费资助 , 安徽省教育厅省级重点学科经费资助 |
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| 摘 要： | 目的研究Peutz-Jeghers综合征一家系的STK11基因突变情况。方法收集1例Peutz-Jeghers综合征家系,采用聚合酶链反应(PCR)及直接测序法对该家系中4例患者STK11基因进行突变检测,以家系中的8例健康者和100例无亲缘关系的正常人作对照。结果家系中4例患者STK11基因的5号外显子第725位碱基鸟嘌呤(G)被腺嘌呤(A)替代,导致第242位的甘氨酸被谷氨酸取代(G242E),而在家系中健康者及无亲缘关系的正常人中均未发现此突变。结论错义突变c.725G>A是导致该家系临床表型的主要原因。
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| 关 键 词： | Peutz-Jeghers综合征 STK11基因 突变 |
| 文章编号： | 1008-6013(2008)02-0115-03 |
| 修稿时间： | 2008-02-26 |
Mutation of STK11 gene in a family with Peutz-Jeghers syndrome |
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| LU Ze-jun,CUI Yong,DU Wen-hui,Fang Qiao-yun,ZHOU Fu-sheng,LIU Jian-jun,YANG Sen,ZHANG Xue-jun. Mutation of STK11 gene in a family with Peutz-Jeghers syndrome[J]. Chinese Journal of Disease Control and Prevention, 2008, 12(2): 115-117 |
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| Authors: | LU Ze-jun CUI Yong DU Wen-hui Fang Qiao-yun ZHOU Fu-sheng LIU Jian-jun YANG Sen ZHANG Xue-jun |
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| Affiliation: | LU Ze-jun; CUI Yong; DU Wen-hui; Fang Qiao-yun; ZHOU Fu-sheng; LIU Jian-jun; YANG Sen; ZHANG Xue-jun. Department of Dermatology; The First Affiliated Hospital of Anhui Medical University; Anhui Medical University; The Key Lab of Gene Resource Utilization for Genetic Diseases of Ministry of Education; Hefei 230032; China; |
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| Abstract: | Objective To explore the mutation of STK11 gene in a Chinese family with Peutz-Jeghers syndrome.Methods All the coding exons of STK11 gene were amplified by polymerase chain reaction and followed by direct sequencing.Results A missense mutation was identified which had been reported previously in the 4 patients,but normal in all controls.Conclusions The c.725G>A(p.G242E)mutation of STK11 gene is the pathologic mutation in this Chinese family. |
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| Keywords: | Peutz-Jeghers syndrome STK11 gene Mutation |
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