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Acta Medica Iranica، جلد ۵۷، شماره ۳، صفحات ۱۴۷-۱۵۱
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عنوان انگلیسی Frequent novel variations within the MSH2 and MLH1 genes in a subset of Iranian HNPCC families
چکیده انگلیسی مقاله     Aims: Hereditary non-polyposis colorectal cancer (HNPCC) is the most frequent autosomal dominant predisposition for development of colorectal cancer (CRC) caused by germline defects in mismatch repair (MMR) genes. This study was aimed to find genetic variations in MSH2 and MLH1 genes and their correlation with the serum levels of Carcinoembrionic Antigen (CEA) in seven Iranian HNPCC families. Materials and Method: Seven unrelated Iranian families including 11 HNPCC patients and 7 affected family members were selected. They were initially screened for mutations in exons 7 of MSH2 and exon 15 of MLH1 gene through polymerase chain reaction single strand conformation polymorphism (PCR-SSCP). Positive PCR results were further analyzed through exon sequencing. Serum CEA level was determined using ELISA test. Results: PCR-SSCP was positive in 8 out of 18 patients (44%) for exons 7 of MSH2 gene, whereas two samples (11%) demonstrated to bear mutation in exon 15 of MLH1 gene. Sequencing analysis of both amplified exons in positive and negative samples have confirmed no mutation in negative samples while revealed 5 and 7 novel mutations in exons 7 and 15, respectively. The mean serum concentration of CEA had significant difference between HNPCC patients and their healthy family members. Conclusion: Our results demonstrated that the PCR-SSCP method has high specificity and sensitivity in the first step of mutation screening of HNPCC families. High frequency of novel alterations found may revise the mutation screening of MSH2 and MLH1 genes and abet further assessment of their frequency among individual HNPCC patients.  
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نویسندگان مقاله | Shadi Javan
Department of Immunology, Isfahan Medical School, Isfahan University of Medical Sciences, Isfahan, Iran


| Alireza Andalib
Department of Immunology, Isfahan Medical School, Isfahan University of Medical Sciences, Isfahan, Iran


| Mohammad Emami
Department of Internal Medicine, Isfahan Medical School, Isfahan University of Medical Sciences, Isfahan, Iran


| Rasul Salehi
Department of Genetics and Molecular Biology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran


| Fatemeh Karami
Department of Medical Genetics, Biophotonics Research Center, Sciences and Research Branch, Islamic Azad University, Tehran, Iran
نشانی اینترنتی http://acta.tums.ac.ir/index.php/acta/article/view/7223
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/56/article-56-1502072.pdf
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