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| 1 | Germline mutation analysis of hPMS2 gene in Chinese families with hereditary nonpolyposis colorectal cancer显示文摘AIM: To study the germline mutation of hPMS2 gene in 26 unrelated Chinese hereditary nonpolyposis colorectal cancer (HNPCC) probands and to fulfill the screening strategy for HNPCC in Chinese. METHODS: Genomic DNA was extracted from the peripheral blood. To avoid the interference of pseudogene in detection of the remaining 11 exons (exon 1-5, 9, 11-15), long-range polymerase chain reaction (PCR) was conducted to amplify the complete coding region of hPMS2 gene firstly. Then 1/8 of the PCR productswere used as template to amplify the individual exon respectively and DNA sequencing was done. Direct DNA sequencing of the conventional PCR products of exon 6, 7, 8 and 10 of hPMS2 gene was performed. The same analysis was made in 130 healthy persons without family histories of HNPCC to further investigate the pathological effects of the detected missense mutation. RESULTS: One HNPCC proband fulf illed Bethesda guidelines and was found to carry the germline mutation of hPMS2 gene, which has not been reported in Chinese HNPCC families. It was a missense mutation at c.1532C>T of exon 11. It was detected in three controls as well with an occurrence rate of 2.3% (3/130). Since it could not be found in the PMS2-single nucleotide polymorphism (SNP) database, this missense mutation is a new SNP unreported up to date. Meanwhile, 260 reported SNPs of hPMS2 gene were detected in the 26 HNPCC probands. The 2nd and 5th exons were probably the hot SNP regions of hPMS2 gene in Chinese HNPCC families involving 53.1% of all reported SNP. CONCLUSION: The germline mutation of hPMS2 gene may be rare in Chinese HNPCC families. The 2nd and 5th exons are hot SNP regions of hPMS2 gene. | Xia Sheng, Xiao-Yan Zhou, Xiang Du, Tai-Ming Zhang, WeiQi Sheng, Da-Ren Shi, Department of Pathology, Shanghai Cancer Center, Fudan University, Shanghai 200032, China Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China Heng-Hua Zhou, Department of Pathology, Shanghai Ninth People’s Hospital Affi liated to Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China San-Jun Cai, Department of Abdominal Surgery, Cancer Center, Fudan University, Shanghai 200032, China | 2010 | World Journal of Gastroenterology2010，16，30： | 6 |
| 2 | Analytical modeling of rail vehicle safety and comfort in short radius curved tracks显示文摘 | NEJLAOUI M AFFI Z HOUIDI A | 2009 | Comptes Rendus Mecanique2009，337，5： | 1 |
| 3 | Utility of EUS in the evaluation of cystic pancreatic lesions显示文摘 | Affi A Vazquez-Sequeiros E | 2002 | Gastrointest Endosc2002，56，4： | 1 |
| 4 | I)esign and Singularity Analysis of a 3-Translational-DOF ha-parallel Manipulator 显示文摘 | ROMDHANE L AFFI Z FAYET M | | Journal of Mechanical Design0，124，3： | 1 |
| 5 | Design and singularity anlysis of a 3-translational-dof in-parallel manipulator 显示文摘 | Romdhane L Affi Z Fayet M | 2002 | Translations of the ASME Journal of Mechanical Design2002，124，7： | 1 |
| 6 | Design and singularity anlysis of a 3-translationald of in-parallel manipulator显示文摘 | Romdhane L Affi Z Fayet M | 2002 | Translations of the ASME Journal of Mechanical Design2002，124，7： | 1 |
| 7 | Does partial root-zone drying alternation frequency enhance water stress resistance and improve water saving? 显示文摘 | Affi N Fadl A E Otmani M E | 2013 | Journal of Materials Environment Science2013，4，3： | 1 |
| 8 | Acute extraluminal hemorrhage associated with EUS-guided fine needle aspiration:frequency and clinical significance显示文摘 | Affi A Vazquez-Sequeiros E Norton ID | | 0，，： | 1 |
| 9 | Prediction of the pose errors produced by joints clearance for a 3-UPU parallel robot显示文摘 | Chebbi A H Affi Z Romdhane L | 2009 | Mechanism and Machine Theory2009，44，9： | 1 |
| 10 | Utility of EUS in the evaluation of cystic pancreatic lesions显示文摘 | Sedlack R Affi A Vazquez-Sequeiros E | | 0，，04： | 1 |
| 11 | Design and singularity analysis of a 3-translational-DOF in-parallel manipulator显示文摘 | Romdhane L Affi Z Fayet M | 2002 | Journal of Mechanical Design2002，124，3： | 1 |
| 12 | Design and singularity anlysis of a 3-translational-dof in-parallel manipulator显示文摘 | Romdhane L Affi Z Fayet M | 2002 | Translations of the ASME Journal of Mechanical Design2002，124，7： | 1 |
| 13 | Repair of a segmental long bone defect in human by implantation of a novel multiple disc graft显示文摘 | Hesse E Kluge G Affi A | 2010 | Bone2010，46，5： | 1 |
| 14 | Acute extraluminal hemorrhage associated with EUS-guided fine needle aspiration: Frequency and clinical significance显示文摘 | Aboud Affi Enrique Vazquez-Sequeiros Ian D. Norton Jonathan E. Clain Maurits J. Wiersema | 2001 | Gastrointestinal Endoscopy2001，，2： | 1 |
| 15 | Application of multi-objective genetic algorithms to the mechatronic design of a four bar system with continuous and discrete variables显示文摘 | El-Kribi B Houidi A Affi Z | 2013 | Mechanism and Machine Theory2013，61，： | 1 |
| 16 | Public health impact of extremely low-frequency electromagnetic felds 显示文摘 | Kheifets L Affi AA Shimkhada R | 2006 | Environ Health Perspeet2006，114，10： | 1 |
| 17 | Process intensification:precipitation of barium sulfate using a spinning disk reactor显示文摘 | CAFIERO L M AFFI G B HIANE A C | 2000 | Ind Eng Chem Res2000，41，21： | 1 |
| 18 | Prospective blinded trial of a fecal antigen test for the detection of Helicobacter pylori infection显示文摘 | Vakil N Affi A Robinson J | 2000 | Am J Gastroenterol2000，95，： | 1 |
| 19 | Hepatitis C virus (HCV) infection: a systemic disease显示文摘 | Craxi A l affi Zignego AL | 2008 | Mol Aspects Med2008，29，12： | 1 |
| 20 | Advanced mechatronic design using a multi-objective genetic algorithm optimization of a motor-driven four-bar system显示文摘 | Zouhaier Affi Badreddine EL-Kribi Lotfi Romdhane | 2007 | Mechatronics2007，，9： | 1 |
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