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[1]潘 红,高洪柳,吴秋月,等.1例家族性腺瘤性息肉病患者的APC基因突变诊断[J].医学研究与战创伤救治(原医学研究生学报),2014,16(06):566-568,580.[doi:10.3969/j.issn.1672-271X.2014.06.002]
 PAN Hong,GAO Hong-liu,WU Qiu-yue,et al.Diagnosis of APC gene mutation in a patient with familiar adenomatous polyposis[J].JOURNAL OF MEDICALRESEARCH —COMBAT TRAUMA CARE,2014,16(06):566-568,580.[doi:10.3969/j.issn.1672-271X.2014.06.002]
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1例家族性腺瘤性息肉病患者的APC基因突变诊断()

《医学研究与战创伤救治》(原医学研究生学报)[ISSN:1672-271X/CN:32-1713/R]

卷:
第16卷
期数:
2014年06期
页码:
566-568,580
栏目:
出版日期:
2014-11-20

文章信息/Info

Title:
Diagnosis of APC gene mutation in a patient with familiar adenomatous polyposis
作者:
潘 红1高洪柳1吴秋月1李卫巍1李天赋1夏欣一1王卫萍1许豪勤2
1.210002 江苏南京,南京军区南京总医院中心实验科;2.210029 江苏南京,江苏省计划生育科研所
Author(s):
PAN Hong1GAO Hong-liu1WU Qiu-yue1LI Wei-wei1LI Tian-fu1XIA Xin-yi1WANG Wei-ping1XU Hao-qin2.
1.Department of Central Laboratory,Nanjing General Hospital of Nanjing Military Command,Nanjing,Jiangsu 210002,China;2.Jiangsu Province Research Institute of Planned Parenthood,Nanjing,Jiangsu 210029,China
关键词:
家族性腺瘤性息肉病结肠息肉病基因缺失突变
Keywords:
familiar adenomatous polyposis (FAP) adenomatous polyposis coli (APC) deletion mutation
分类号:
R735.3
DOI:
10.3969/j.issn.1672-271X.2014.06.002
文献标志码:
A
摘要:
目的 对1例家族性腺瘤性息肉病患者进行结肠息肉病致病基因(adenomatous polyposis coli,APC)的突变检测。方法 从患者外周血中提取基因组DNA,用目标序列捕获结 合二代测序技术对APC致病基因进行测序并用Sanger测序验证。结果 患者的APC经分析后发现1个杂合的缺失突变c.3931_3925delAAAAG(p.Ile1307IlefsX6);该突变引起APC基因的 编码序列移码突变,产生一个提前终止的密码子,生成一截短的蛋白而影响蛋白功能。结论 APC基因编码区的缺失突变c.3931_3925delAAAAG(p.Ile1307IlefsX6)为该患者的致病原 因。
Abstract:
Objective To diagnose the mutation of adenomatous polyposis coli (APC) in a patient with familiar adenomatous polyposis (FAP).Methods Genomic DNA was extracted from peripheral blood of the patient.Target region enrichment combined with next generation sequencing was performed for the patient.The mutation screened by target region capture sequencing was further identified by Sanger sequencing.Results A heterozygous deletion mutation of c.3931_3925delAAAAG,p.Ile1307IlefsX6 in APC was identified,which resulted in a frameshift within the coding sequence and brought about a premature translation termination codon.Conclusion The mutation of c.3931_3925delAAAAG (p.Ile1307IlefsX6) in APC gene contributed to the pathogenesis of familiar adenomatous polypsis.

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备注/Memo

备注/Memo:
江苏省自然科学基金(BK2011660);江苏省科技厅省级科技专项(BM2013058);南京军区南京总医院课题立项(2013059)
更新日期/Last Update: 2014-11-20