fa آنالیز پیوستگی ژنتیکی لوکوس DFNB9 با ناشنوایی غیرنشانگانی اتوزومی مغلوب در استان خوزستان پزشکی مولکولی و ژنتیک Molecular Medicine and Genetics پژوهشي اصیل Original Research <span style="font-size:11pt"><span style="direction:rtl"><span style="unicode-bidi:embed"><span style="line-height:107%"><span style="font-family:Calibri,sans-serif"><b><span lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">چکیده </span></span></span></b></span></span></span></span></span><br> <span style="font-size:11pt"><span style="direction:rtl"><span style="unicode-bidi:embed"><span style="line-height:107%"><span style="font-family:Calibri,sans-serif"><b><span lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">زمینه و هدف:</span></span></span></b> &nbsp;<span lang="AR-SA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">ناشنوایی رایج ترین نقص حسی در انسان است. این بیماری به دلیل عوامل محیطی و ژنتیکی است که در بیش از 50 درصد به عوامل ژنتیکی مربوط می شود. ناشنوایی ژنتیکی به انواع نشانگانی و غیر نشانگانی تقسیم می گردد.&nbsp; بیش از 70% موارد ناشنوایی ارثی، غیرنشانگانی</span></span></span> <span lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">(</span></span></span><span dir="LTR" new="" roman="" style="font-family:" times="">NSHL</span><span lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">)</span></span></span> <span lang="AR-SA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">است که الگوی اصلی وراثت آن (80 % موارد) اتوزومی مغلوب است( </span></span></span><span dir="LTR" new="" roman="" style="font-family:" times="">ARNSHL</span><span lang="AR-SA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">). هدف از</span></span></span><span lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar=""> این</span></span></span><span lang="AR-SA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar=""> مطالعه بررسی نقش لوکوس</span></span></span><span dir="LTR" new="" roman="" style="font-family:" times="">DFNB9 </span>&nbsp;<span lang="AR-SA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">در ایجاد ناشنوایی در گروهی از خانواده های دارای</span></span></span> <span dir="LTR" new="" roman="" style="font-family:" times="">ARNSHL</span> <span lang="AR-SA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">در استان خوزستان است</span></span></span><span dir="LTR" style="font-size:12.0pt"><span style="line-height:107%">.</span></span><span lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span style="font-family:"B Zar""></span></span></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="direction:rtl"><span style="unicode-bidi:embed"><span style="line-height:107%"><span style="font-family:Calibri,sans-serif"><b><span lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">مواد و روش&shy;ها:</span></span></span></b> <span lang="AR-SA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">این مطالعه برروی 22</span></span></span><span lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar=""> خانواده </span></span></span><span dir="LTR" new="" roman="" style="font-family:" times="">ARNSHL</span><span style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar=""> با حداقل 4 فرد ناشنوا و منفی برای جهش های </span></span></span><i><span dir="LTR" new="" roman="" style="font-family:" times="">GJB2</span></i><span lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar=""> در استان خوزستان انجام گردید. آنالیز پیوستگی با استفاده از نشانگرهای </span></span></span><span dir="LTR" new="" roman="" style="font-family:" times="">Short Tandem Repeat</span><span style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar=""> مربوط به لوکوس </span></span></span>&nbsp;<span dir="LTR" new="" roman="" style="font-family:" times="">DFNB9</span><span lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">انجام شد. ژنوتیپ مربوط به هر خانواده با روش</span></span></span> <span lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">الکتروفورز ژل پلی آکریل آمید تعیین گردید. هم چنین رسم هاپلوتایپ و محاسبه امتیاز</span></span></span><span dir="LTR" new="" roman="" style="font-family:" times="">LOD</span> <span lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">انجام گردید</span></span></span><span dir="LTR" style="font-size:12.0pt"><span style="line-height:107%">.</span></span><span lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span style="font-family:"B Zar""></span></span></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="direction:rtl"><span style="unicode-bidi:embed"><span style="line-height:107%"><span style="font-family:Calibri,sans-serif"><b><span lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">&nbsp;یافته‌ها:</span></span></span></b> <span lang="AR-SA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">آنالیز پیوستگی و رسم هاپلوتایپ نشان داد که 1خانواده (5/4%) به لوکوس</span></span></span> <span dir="LTR" new="" roman="" style="font-family:" times="">DFNB9</span> <span lang="AR-SA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">پیوستگی دارد.</span></span></span><span lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span style="font-family:"B Zar""></span></span></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="direction:rtl"><span style="unicode-bidi:embed"><span style="line-height:107%"><span style="font-family:Calibri,sans-serif"><b><span lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">نتیجه‌گیری:</span></span></span></b> <span lang="AR-SA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">برمبنای نتایج حاصل از پژوهش حاضر </span></span></span><span lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">سهم</span></span></span><span lang="AR-SA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar=""> لوکوس </span></span></span><span dir="LTR" new="" roman="" style="font-family:" times="">DFNB9</span> <span lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">در ایجاد ناشنوایی در جمعیت استان خوزستان مشابه با سایرمطالعات انجام شده درکشور است و بایستی</span></span></span> <span lang="FA" style="font-size:12.0pt"><span style="line-height:107%"><span b="" style="font-family:" zar="">به همراه سایر لوکوسهای مهم جهت بررسی درپانل ناشنوایی مورد توجه قرارگیرد.</span></span></span><span dir="LTR" style="font-size:12.0pt"><span style="line-height:107%"></span></span></span></span></span></span></span><br> &nbsp; <span style="font-size:11pt"><span style="line-height:107%"><span style="font-family:Calibri,sans-serif"><b><span new="" roman="" style="font-family:" times="">Background and Aim:</span></b><span new="" roman="" style="font-family:" times=""> Hearing loss is the most common sensory defect in humans. The disease is because of environmental and genetic factors that in more than %50, it is related to the genetic factors. The genetic hearing loss is divided into non-syndromic and syndromic types. More than 70% of cases of hereditary hearing loss are non-syndromic hearing loss (NSHL) whose main pattern of inheritance (80% of cases) is autosomal recessive (ARNSHL). The aim of this study is to investigate the role of DFNB9 locus in causing hearing loss in a group of families with ARNSHL in Khuzestan province. </span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:107%"><span style="font-family:Calibri,sans-serif"><b><span new="" roman="" style="font-family:" times="">Materials and Methods:</span></b><span new="" roman="" style="font-family:" times=""> This study was done on 22 ARNSHL families with at least 4 hearing loss and negative individuals for <i>GJB2</i> mutations in Khuzestan province. Linkage analysis was performed by using the STR (Short Tandem Repeat) markers that were related to DFNB9 locus. The genotype of each family was determined by the PolyAcrylamide Gel Electrophoresis method. Moreover, the haplotype was drawn and the LOD score was calculated.<br> <b>Results:<i> </i></b>Linkage analysis and haplotype assessment showed that 1 family (4.5%) was linked to DFNB9 locus.</span><span lang="AR-SA" dir="RTL" style="font-family:"B Zar""></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:107%"><span style="font-family:Calibri,sans-serif"><b><span new="" roman="" style="font-family:" times="">Conclusion: </span></b><span new="" roman="" style="font-family:" times="">Based on the results of the present study, the role of DFNB9 locus in causing hearing loss in Khuzestan province is similar to other studies conducted in the country and should be considered along with other important loci in the hearing loss panel.</span></span></span></span><br> &nbsp; ناشنوایی, لوکوس DFNB9 , توالی تکراری کوتاه,آنالیز پیوستگی ژنتیکی Hearing loss, DFNB9 locus, Short Tandem Repeat, Genetic Linkage Analysis. 1 10 http://sjku.muk.ac.ir/browse.php?a_code=A-10-6803-1&slc_lang=fa&sid=1 parisa tahmasebi پریسا طهماسبی p.tahmasbi@ilam.ac.ir 5400319475328460072197 5400319475328460072197 Yes Ilam University دانشگاه ایلام Mohammad Amin Tabatabaiefar محمد امین طباطبایی فر tabatabaiefar@med.mui.ac.ir 5400319475328460072198 5400319475328460072198 No Isfahan University of Medical Sciences دانشگاه علوم پزشکی اصفهان