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[1]杨银学,魏军,杨宝珍,等.家族性腺瘤性息肉病家系成员APC基因胚系突变分析[J].宁夏医科大学学报,2007,(04):340-341.
 YANG Yin-xue,WEI Jun,YANG Bao-zhen,et al.A Study on Germline APC Gene Mutation in a Familial Adenomatous Polyposis Pedigree[J].Ningxia Medical University,2007,(04):340-341.
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家族性腺瘤性息肉病家系成员APC基因胚系突变分析(PDF)
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《宁夏医科大学学报》[ISSN:1005-8486/CN:64-1029/R]

卷:
期数:
2007年04期
页码:
340-341
栏目:
论著
出版日期:
2007-07-20

文章信息/Info

Title:
A Study on Germline APC Gene Mutation in a Familial Adenomatous Polyposis Pedigree
作者:
杨银学魏军杨宝珍赵志军张东师新荣
宁夏医学院附属医院,银川 750004
Author(s):
YANG Yin-xueWEI JunYANG Bao-zhenZHAO Zhi-junZHANG DongSHI Xin- rong
The Affiliated Hospital of Ningxia Med.Coll.,Yinchuan 750004
关键词:
家族性腺瘤性息肉病 APC基因 胚系突变
Keywords:
familial adenomatous polyposis aenomatous polyposis coli gen e germline mutations
分类号:
R735.3
DOI:
-
文献标志码:
A
摘要:
目的 分析家族性腺瘤性息肉病(familial adenomatous polyposis pedigree,FAP ) 一家系成员结肠腺瘤性息肉病(aenomatous polyposis coli,APC)基因突变类型。方法 对本区一家系3代9人抽取静脉血试剂盒提取白细胞DNA,应用聚合酶链反应(Polymerase cha in reaction,PCR)方法扩增APC全基因,制备DNA测序的模板,用DNA自动测序仪进行测序, 并利用生物信息学方法进行分析。结果 9名家族性腺瘤性息肉病家系成 员结果一致,共检 出2类APC基因突变类型,无意义突变:1493(ACG>ACA)、1756(TCT>TCG)和错义突变:1822 ( GTC>GAC)。结论 9名家系成员具有一致的APC基因突变类型组合,这种 组合可能是引起该家系临床表型的原因。
Abstract:
Objective To analysis germline APC gene mutations in a famil ial ade nomatous polyposis pedigree. Methods chromosome DNA was extracte d from blood of nine family members by DNA extract kit.DNA sequencing template was prepared b y using PCR.DNA sequencing was performed on an automatic sequencer(ABI PRISM 3 7 796)and the results was analyzed by bio-informatics technology.Results 2 type s of APC gene mutations were identified,namely,codon1493(ACG>ACA)and codon17 5 6(TCT>TCG)were nonsense mutation; codon1822(GTC>GAC)was misssense mutation .C onclusion Nine family members had coincident gene mutation types and thi s condition perhaps was the reason that caused FAP phenotype.

参考文献/References:

[1] Maureen J,Tommie V,Curimin T.Familial adenomatous polypo sis from beside to benchside[J]. Am J Clin Path,1998,109:521.
[2] Wei SC,Su YN,Tsai-Wu JJ,et al. Genetic analysis of the APC gene in Taiwa nese familial adenomatous polyposis[J].Biomed Sci,2004,11:260 -265.
[3] [美]J.萨姆布鲁克 D.W 拉塞尔著.黄培堂等译.分子克隆实验指南[M].北 京:科学出版社,2002.
[4] Kinzler KW,Nilbert MC,Su L K,et al. Identification of FAP locus genes fr om chromosome 5q21[J].Science,1991,253:661-665.
[5] Nishisho I,Nakamura Y,Miyoshi Y,et al.Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients[J]. Science,1991,253:665-669.
[6] Heinritz W,Kujat A,Froster UG.Detection of five new mutations in the APC gene using denaturing high-performance liquid chromatography[J].Clin Genet,2003,6 3:325-327.
[7] Liu XR,Shan XN,Friedl W,et al. Analysis of germ-line mutations in the AP C gen e in familial adenomatous polyposis patients[J]. Chin J Med Genet,2005,22:261 -264.

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备注/Memo

备注/Memo:
收稿日期:2007-05-18 基金项目:宁夏自然科学基金(A3025) 作者简介:杨银学(1960-),男,宁夏人,主任医师,博士,教授,主要从事普外 科医疗、教学、科研以及医院管理工作。
更新日期/Last Update: 2007-07-20