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| 1 | Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients显示文摘AIM: To investigate the protein expression profi le of mismatch repair (MMR) genes in suspected cases of Lynch syndrome and to characterize the associated germline mutations. METHODS: Immunohistochemical analysis of tumor samples was performed to determine the protein expression profile of MMR protein. Germline mutation screening was carried out on peripheral blood samples. The entire exon regions of MLH1 and MSH2 geneswere amplifi ed by polymerase chain reaction, screened by denaturing high performance liquid chromatography (dHPLC) and analyzed by DNA sequencing to characterize the germline mutations. RESULTS: Three out of 34 tissue samples (8.8%) and four out of 34 tissue samples (11.8%) showed loss of nuclear staining by immunohistochemistry, indicating the absence of MLH1 and MSH2 protein expression in carcinoma cells, respectively. dHPLC analysis followed by DNA sequencing showed these samples to have germline mutations of MSH2 gene. However, no deleterious mutations were identifi ed in any of the 19 exons or coding regions of MLH1 gene, but we were able to identify MLH1 promoter polymorphism, -93G > A (rs1800734), in 21 out of 34 patients (61.8%). We identified one novel mutation, transversion mutation c.2005G > C, which resulted in a missense mutation (Gly669Arg), a transversion mutation in exon 1, c.142G > T, which resulted in a nonsense mutation (Glu48Stop) and splice-site mutation, c.2006-6T > C, which was adjacent to exon 13 of MSH2 gene. CONCLUSION: Germline mutations were identified in four Malaysian Lynch syndrome patients. Immunohistochemical analysis of tumor tissue proved to be a good pre-screening test before proceeding to germline mutation analysis of DNA MMR genes. | Mohd Nizam Zahary Ravindran Ankathi Human Genome Centre Gurjeet Kaur Muhammad Radzi Abu Hassan Harjinder Singh Venkatesh R Naik | 2012 | World Journal of Gastroenterology2012，18，8： | 3 |
| 2 | PTEN and the PI-3 kinase pathway显示文摘 | Parsons R Human cancer | 2004 | Semin Cell Dev Biol2004，15，2： | 1 |
| 3 | Purification and characterization of vanadium haloperoxidases from the brown alga pelvetia canaliculata显示文摘 | Almeida M G Humanes M Melo R | 2000 | Phytochemistry2000，54，： | 1 |
| 4 | Comprehensive seven animal coronavirus 229E with a microarray hybridization assay显示文摘 | Chen detection Q Li J and coronaviruses and Deng Z R et identification of human respiratory a l | 2010 | Intervirology2010，，53： | 1 |
| 5 | Vanadium haloperoxidases from brown algae of the Laminariaceae family显示文摘 | Almeida M Filipe S Humanes M Maia M F Melo R Severino N Da Silva J A L Da Silva J J R F Wever R | 2001 | Phytochemistry2001，57，： | 1 |
| 6 | Seasonal prevalence of pathogens and parasites in the savannah honeybee(Apis mellifera scutellata)显示文摘 | Strauss U Human H Gauthier L Crewe R M Dietemann V Pirk C W | 2013 | J Invertebr Pathol2013，114，1： | 1 |
| 7 | Geographic distribution of wild potato species 显示文摘 | HUMANS R J SPOONER D M | 2001 | American Journal of Botany2001，88，11： | 1 |
| 8 | Finishing the euchromatic sequence of human genome显示文摘 | International human genome sequencing consortium (Corresponding authors:Collins F S Lander E S Rogers J Waterston R H) | 2004 | Nature2004，431，： | 1 |
| 9 | Competition during catalysis 显示文摘 | Wang R W Newton D J Scheri T D et aL Human cytochrome P450 3A4-catalyzed testosterone 6 beta-hydroxylation and erythromycin N- demethylation | 1997 | Drug Metal) Dispos1997，25，4： | 1 |
| 10 | Phylogeographic lineages and species comparisons in con- servation analyses : a case study of California herpetofauna 显示文摘 | RISSLER L J HUMANS R J GRAHAM C H | 2006 | Am Nat2006，167，： | 1 |
| 11 | Ann Intern Med显示文摘 | Wilkes M Navickis R Patient survival after human albumin administration | 2001 | 135:149-1642001，135，： | 1 |
| 12 | -a systematic review显示文摘 | Cha Thomas D Salmon R irna diseases virus and the evdericefor human pathogenicty | 2005 | Q J Meal2005，98，： | 1 |
| 13 | A Survey显示文摘 | Chellappa R etal Human and Machine Recognotion of Faces | 1995 | Proceedings of IEEE1995，85，05： | 1 |
| 14 | Carbon isotope discrimination and foliar nutrient status of Larrea tridentata (creosote bush) in contrasting Mojave Desert soils显示文摘 | Hamerlynck E P Human T E McAuliffe J R | 2004 | Oecologia2004，138，2： | 1 |
| 15 | Social,and Now Positive Psychological Capital Management: Investing in People for Competitive Advantage显示文摘 | Hosen R Youssef C M Human | 2004 | Organizational Dynamics2004，33，2： | 1 |
| 16 | and oral cancer: the International Agency for Research on cancer multicenter study显示文摘 | Herrero R Castellsague Human papillomavirus X Pawlita M | 2003 | J Nat1 Cancer Inst2003，95，： | 1 |
| 17 | 显示文摘 | Dai B Widen SG Mifflin R & Singh P Cloning of the functional promoter for human insulin-like growth factor binding protein-4 gene: endogenous regulation | 1997 | Endocrinology1997，138，： | 1 |
| 18 | Overview r novel options for cervical cancer screening in developed and developing countries显示文摘 | Cuzick J Arbyn M Sankaranarayanan of human papillomavirus-based and o R the | 2008 | Vaccine2008，26，10： | 1 |
| 19 | Resistance of developing honeybee larvae during chronic exposure to dietary nicotine显示文摘 | HUMAN H ARCHER C R DU RAND E E | 2014 | Journal of Insect Physiology2014，69，： | 1 |
| 20 | Potential environmental risks associated with the new sulfonylurea herbicides 显示文摘 | John S F Thomas G P Human C R | 1993 | Environ Sci Technol1993，27，： | 1 |
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