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:: دوره 23، شماره 3 - ( دوماه نامه 1398 ) ::
جلد 23 شماره 3 صفحات 333-318 برگشت به فهرست نسخه ها
مروری بر علل ژنتیکی آستنوزوسپرمی
اروند اکبری ، زهرا انوار ، مجتبی جعفری نیا ، مهدی توتونچی
پژوهشگاه رویان، پژوهشکده زیست شناسی و علوم پزشکی تولیدمثل جهاد دانشگاهی، مرکز تحقیقات پزشکی تولیدمثل، گروه ژنتیک، تهران، ایران ، m.totonchi@royaninstitute.org
چکیده:   (3982 مشاهده)
سابقه و هدف: آستنوزوسپرمی به ­عنوان شایع ­ترین اختلال منجر به ناباروری مردان، به­ صورت کمبود شدید حرکت پیش­رونده‌ی اسپرم در هر انزال تعریف می­ شود. این فنوتیپ می­ تواند هم به­صورت غیرسندرومی و هم به ­صورت سندرومی وجود داشته باشد که در حالت دوم به ­عنوان یک عارضه جانبی سندروم مژک ­های بی­ حرکت بروز می­ کند. در دهه گذشته به­ واسطه ظهور تکنولوژی­ های جدید توالی­یابی، ژن­ های متعددی در رابطه با بیماری ­های مختلف شناسایی شده­ اند. در این مقاله­ ی مروری به ژن­ هایی که به ­واسطه مطالعات ژنتیکی نقش آن­ ها در آستنوزوسپرمی شناسایی شده است، می­ پردازیم.
مواد و روش ­ها: با بررسی مقالات مستخرج از PubMed استراتژی ­های مورد استفاده در مقالات پژوهشی مورد بررسی قرار گرفته و سپس به مرور ژن­ هایی پرداخته می­ شود که با استفاده از تکنیک­ های مبتنی بر توالی­ یابی نسل جدید در رابطه با آستنوزوسپرمی و سندرم مژک­ های بی­ حرکت معرفی شده­ اند.
نتایج: تابه ­حال ژن­ های DNAH1، SEPT12، SLC26A8، CATSPER1، CATSPER2 و ژن ADCY10 در ارتباط با آستنوزوسپرمی غیرسندرومی معرفی شده­اند. همچنین واریته­ های بیماری­ زا در ژن ­های DNAI1، DNAH5، DNAAF2، CCDC39، DYC1X1 و LRRC6 منجر به ایجاد سندروم مژک ­های بی­ حرکت و آستنوزوسپرمی به­ صورت سندرومی می­ شوند.
نتیجه­ گیری: مطالعات مبتنی بر توالی­ یابی نسل جدید و به­ خصوص مطالعات توالی ­یابی اگزوم در خانواده ­های شامل چند فرد مبتلا در سالیان اخیر، موفقیت چشم­گیری در معرفی واریته ­های ژنتیکی بیماری­ زا و افزایش دانش نسبت به ژنتیک ناباروری ایفا کرده است.
واژه‌های کلیدی: آستنوزوسپرمی، سندروم مژک های بی حرکت، توالی یابی نسل جدید، توالی یابی اگزوم
متن کامل [PDF 527 kb]   (3105 دریافت)    
نوع مطالعه: مروري | موضوع مقاله: عمومى
دریافت: 1397/10/25 | ویرایش نهایی: 1398/5/27 | پذیرش: 1398/1/26 | انتشار: 1398/5/9
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Akbari A, Anvar Z, Jaafarinia M, Totonchi M. Genetic etiology of Asthenozoospermia: A review. Feyz 2019; 23 (3) :318-333
URL: http://feyz.kaums.ac.ir/article-1-3790-fa.html

اکبری اروند، انوار زهرا، جعفری نیا مجتبی، توتونچی مهدی. مروری بر علل ژنتیکی آستنوزوسپرمی. مجله علوم پزشکی فيض. 1398; 23 (3) :318-333

URL: http://feyz.kaums.ac.ir/article-1-3790-fa.html



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دوره 23، شماره 3 - ( دوماه نامه 1398 ) برگشت به فهرست نسخه ها
مجله علوم پزشکی فیض Feyz Medical Sciences Journal
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