fa همراهی چندشکلی rs63749820 ژن MLH1 با استعداد ابتلا به سرطان پستان در شمال‌غرب ایران پزشکی مولکولی و ژنتیک Molecular Medicine and Genetics پژوهشي اصیل Original Research <span style="font-size:11pt"><span style="line-height:normal"><span style="tab-stops:58.3pt"><span style="direction:rtl"><span style="unicode-bidi:embed"><span style="font-family:Calibri,sans-serif"><b><span lang="FA" style="font-size:12.0pt"><span b="" style="font-family:" zar="">&nbsp;&nbsp;</span></span></b></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="direction:rtl"><span style="unicode-bidi:embed"><span sans-serif="" style="font-family:Calibri,"><b><span lang="FA" style="font-size:12.0pt"><span b="" style="font-family:" zar="">زمینه و هدف:</span></span></b> <span lang="AR-SA" style="font-size:12.0pt"><span b="" style="font-family:" zar="">بر اساس آمارهای موجود در سال 2020 </span></span><span lang="FA" style="font-size:12.0pt"><span b="" style="font-family:" zar="">سرطان پستان شایع&shy;ترین سرطان زنان بوده است.</span></span> <span lang="FA" style="font-size:12.0pt"><span b="" style="font-family:" zar="">پروتئین کدگذاری شده توسط ژن </span></span><span dir="LTR" new="" roman="" style="font-family:" times="">MLH1</span><span style="font-size:12.0pt"><span b="" style="font-family:" zar=""> بخشی از سیستم </span></span><span lang="FA" style="font-size:12.0pt"><span b="" style="font-family:" zar="">تعمیر جفت باز ناجور </span></span><span dir="LTR" new="" roman="" style="font-family:" times="">mismatch repair (MMR)</span> <span lang="FA" style="font-size:12.0pt"><span b="" style="font-family:" zar="">است. در این پژوهش همراهی چندشکلی</span></span><span dir="LTR" new="" roman="" style="font-family:" times=""> rs63749820 C>T </span><span style="font-size:12.0pt"><span b="" style="font-family:" zar="">&nbsp;ژن</span></span><span dir="LTR" new="" roman="" style="font-family:" times=""> MLH1 </span><span lang="FA" style="font-size:12.0pt"><span b="" style="font-family:" zar="">با استعداد ابتلا به سرطان پستان در شمال غرب ایران مورد بررسی قرار گرفت.</span></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="direction:rtl"><span style="unicode-bidi:embed"><span sans-serif="" style="font-family:Calibri,"><b><span lang="FA" style="font-size:12.0pt"><span b="" style="font-family:" zar="">مواد و روش‌ها:</span></span></b><span lang="FA" style="font-size:12.0pt"><span b="" style="font-family:" zar=""> این مطالعه به صورت مورد- شاهدی، بر روی 100 زن مبتلا به سرطان پستان و 100 زن سالم بدون سابقه ابتلا به سرطان در اقوام درجه 1 و 2 انجام شد. چندشکلی تک نوکلئوتیدی با تکنیک </span></span><span dir="LTR" new="" roman="" style="font-family:" times="">Tetra-ARMS PCR</span><span lang="FA" style="font-size:12.0pt"><span b="" style="font-family:" zar=""> مورد بررسی قرار گرفت.</span></span><span lang="FA" style="font-size:12.0pt"><span b="" style="font-family:" zar=""><span style="color:black"> تحلیل داده&shy;های حاصل با استفاده از برنامه‌ی آماری آنلاین </span></span></span><span dir="LTR" new="" roman="" style="font-family:" times=""><span style="color:black">java stat</span></span><span style="font-size:12.0pt"><span b="" style="font-family:" zar=""><span style="color:black"> و نرم‌افزار </span></span></span><span dir="LTR" new="" roman="" style="font-family:" times=""><span style="color:black">SPSS</span></span><span style="font-size:12.0pt"><span b="" style="font-family:" zar=""><span style="color:black"> نسخه‌ی 26 انجام ‌شد.</span></span></span><span dir="LTR" style="font-family:"Times New Roman","serif""></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="page-break-after:avoid"><span style="direction:rtl"><span style="unicode-bidi:embed"><span sans-serif="" style="font-family:Calibri,"><b><span lang="FA" style="font-size:12.0pt"><span b="" style="font-family:" zar="">یافته‌ها:</span></span></b><span lang="FA" style="font-size:12.0pt"><span b="" style="font-family:" zar=""> توزیع ژنوتیپی افراد بیمار و سالم برای ژنوتیپ</span></span><span dir="LTR" style="font-size:12.0pt"><span new="" roman="" style="font-family:" times=""> CC </span></span><span lang="FA" style="font-size:12.0pt"><span b="" style="font-family:" zar="">به ترتیب 23/91 % و 28/57 % برای ژنوتیپ</span></span><span dir="LTR" style="font-size:12.0pt"><span new="" roman="" style="font-family:" times=""> TT </span></span><span lang="FA" style="font-size:12.0pt"><span b="" style="font-family:" zar="">به ترتیب 11/95 % و 5/10 % و برای ژنوتیپ</span></span><span dir="LTR" style="font-size:12.0pt"><span new="" roman="" style="font-family:" times=""> CT </span></span><span lang="FA" style="font-size:12.0pt"><span b="" style="font-family:" zar="">به ترتیب 64/13 % و 66/32 %</span></span> <span lang="FA" style="font-size:12.0pt"><span b="" style="font-family:" zar="">بود.&nbsp; به ترتیب در افراد بیمار و کنترل فراوانی آلل</span></span><span dir="LTR" style="font-size:12.0pt"><span new="" roman="" style="font-family:" times="">C </span></span><span lang="FA" style="font-size:12.0pt"><span b="" style="font-family:" zar="">، 55/98</span></span> <span lang="FA" style="font-size:12.0pt"><span b="" style="font-family:" zar="">%و 61/73 %و فراوانی آلل</span></span><span dir="LTR" style="font-size:12.0pt"><span new="" roman="" style="font-family:" times="">T </span></span><span lang="FA" style="font-size:12.0pt"><span b="" style="font-family:" zar="">، 44/04%</span></span> <span lang="FA" style="font-size:12.0pt"><span b="" style="font-family:" zar="">و 38/27% بود.<span style="color:black"></span></span></span></span></span></span></span></span></span><br> <b><span dir="RTL" lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">نتیجه‌گیری:</span></span></span></b><span dir="RTL" lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar=""> یافته‌های این پژوهش نشان داد ارتباط معنی داری بین توزیع ژنوتیپی و آللی چندشکلی</span></span></span><span style="font-size:11.0pt"><span style="line-height:107%"><span new="" roman="" style="font-family:" times=""> rs63749820</span></span></span><span dir="RTL" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar=""> ژن</span></span></span><span style="font-size:11.0pt"><span style="line-height:107%"><span new="" roman="" style="font-family:" times=""> MLH1 </span></span></span><span dir="RTL" lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">با افزایش خطر ابتلا به سرطان وجود ندارد.</span></span></span><span dir="RTL" lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar=""><span style="color:black"> ارتباط بین ویژگی&shy;های بالینی افراد مبتلا به سرطان پستان شامل سن، درجه تومور، درگیری لنف، سمت درگیر، اندازه تومور، نوع تومور با توزیع ژنوتیپی این </span></span></span></span><span style="font-size:11.0pt"><span style="line-height:107%"><span new="" roman="" style="font-family:" times=""><span style="color:black">SNP</span></span></span></span><span dir="RTL" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar=""><span style="color:black"> معنادار نبود</span></span></span></span> <span style="font-size:11pt"><span style="line-height:normal"><span style="unicode-bidi:embed"><span calibri="" style="font-family:"><b><span style="font-size:12.0pt"><span new="" roman="" style="font-family:" times="">Background and Aim:</span></span></b><span style="font-size:12.0pt"><span new="" roman="" style="font-family:" times=""> According to the available statistics in 2020, breast cancer was the most common cancer in women. The protein encoded by the MLH1 gene is part of the mismatch repair (MMR) system. In this study, the association of rs63749820 C>T polymorphism of MLH1 gene with susceptibility to breast cancer in northwest Iran was investigated.</span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="unicode-bidi:embed"><span calibri="" style="font-family:"><b><span style="font-size:12.0pt"><span new="" roman="" style="font-family:" times="">Materials and methods:</span></span></b><span style="font-size:12.0pt"><span new="" roman="" style="font-family:" times=""> This case-control study was conducted on 100 women with breast cancer and 100 healthy women with no history of cancer in 1st and 2nd degree relatives. Single nucleotide polymorphism was investigated by Tetra-ARMS PCR technique. The analysis of the resulting data was done using the online statistical program java stat and SPSS version 26 software.</span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="unicode-bidi:embed"><span calibri="" style="font-family:"><b><span style="font-size:12.0pt"><span new="" roman="" style="font-family:" times="">Results:</span></span></b> <span style="font-size:12.0pt"><span new="" roman="" style="font-family:" times="">The genotypic distribution of sick and healthy people was 23.91% and 28.57% respectively for CC genotype, 11.95% and 5.10% for TT genotype and 64.13% and 66.32% respectively for CT genotype. The frequency of C allele was 55.98% and 61.73% and the frequency of T allele was 44.04% and 38.27% in patients and control subjects, respectively.</span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span style="unicode-bidi:embed"><span calibri="" style="font-family:"><b><span style="font-size:12.0pt"><span new="" roman="" style="font-family:" times="">Conclusion:</span></span></b><span style="font-size:12.0pt"><span new="" roman="" style="font-family:" times=""> The findings of this research showed that there is no significant relationship between the genotypic and allelic distribution of MLH1 gene rs63749820 polymorphism with increased risk of breast cancer risk. Also, the relationship between the clinical characteristics of people with breast cancer including age, tumor grade, lymph involvement, involved side, tumor size, tumor type with the genotypic distribution of this SNP was not significant.</span></span></span></span></span></span><br> &nbsp; سرطان پستان, چندشکلی تک‌نوکلئوتیدی, مطالعه همراهی, ژن MLH1 breast cancer, single nucleotide polymorphism, association study, MLH1 gene 14 24 http://sjku.muk.ac.ir/browse.php?a_code=A-10-6030-2&slc_lang=fa&sid=1 Fatemeh Azimi فاطمه عظیمی f.azimi3100@gmail.com 5400319475328460070432 5400319475328460070432 No MSc student, Department of Cellular and Molecular Biology, Faculty of Sciences, Azarbaijan Shahid Madani University, Tabriz, Iran دانشجوی کارشناسی ارشد زیست شناسی سلولی و مولکولی دانشگاه شهید مدنی آذربایجان، تبریز، ایران Sara Ghaffarian سارا غفاریان s.ghaffarian@azaruniv.ac.ir 5400319475328460070433 5400319475328460070433 Yes استادیار گروه زیست شناسی، دانشکده علوم پایه، دانشگاه شهید مدنی آذربایجان، تبریز، ایران Mehdi Haghi مهدی حقی mehdihaghi@tabrizu.ac.ir 5400319475328460070434 5400319475328460070434 No استادیار گروه زیست شناسی جانوری، دانشکده علوم طبیعی، دانشگاه تبریز، تبریز، ایران.