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| 家族性腺瘤性息肉病患者APC基因胚系突变的初步研究 |
| 楼征,于恩达,孟荣贵,傅传刚,刘连杰,徐晓东,王颢,郝立强,LOUZheng,YUEn-da,MENGRong-gui,FUChuan-gang,LIULian-jie,XUXiao-dong,WANGHao,HAOLi-qiang |
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| 摘要: |
| 目的:探讨国人家族性腺瘤性息肉病(FAP)患者APC基因胚系突变的特点.方法:对我院2004年3月至2005年3月收治的6例FAP患者运用PCR变性高效液相色谱技术检测APC基因,对可疑突变者进行测序.结果:变性高效液相色谱检测共发现3个可疑突变片段,经DNA测序证实3个片段均存在突变.其中,15号外显子2例,14号内含子1例.结论:国人FAP患者相同基因型APC基因突变可有不同表现型. |
| 关键词: 腺瘤息肉病,结肠、APC基因、突变 |
| DOI：10.3724/SP.J.1008.2006.00358 |
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| Germline APC gene mutation in patients with familial adenomatous polyposis:a preliminary study |
| 楼征,于恩达,孟荣贵,傅传刚,刘连杰,徐晓东,王颢,郝立强,LOU Zheng,YU En-da,MENG Rong-gui,FU Chuan-gang,LIU Lian-jie,XU Xiao-dong,WANG Hao,HAO Li-qiang |
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| Abstract: |
| Objective：To explore the characteristics of germline APC gene mutations in Chinese patients with familial adenomatous polyposis（FAP）. Methods： Six FAP patients （March 2004 to March 2005） were screened for germline mutation of APC gene by PCR-denaturing high-performance liquid chromatography and direct sequencing. Results： Mutations were identified in 3 patients from 6 unrelated families. The first and second mutation was at codon 1 509, resulting in an amino acid change from Arginine to Glutamine; the third mutation involved four base-pairs insertion in the sequence of AGAA at intron 14. Conclusion： Chinese FAP patients with same APC genotype mutation may have different phenotypes |
| Key words: adenomatous polyposis coli APC gene mutation |
