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سال ۱۴۰۳ مبارک

:: دوره 21، شماره 4 - ( زمستان 1398 ) ::
جلد 21 شماره 4 صفحات 13-1 برگشت به فهرست نسخه ها
میکروسفالی اولیه اتوزومی مغلوب: یک مطالعه مروری
عاطفه شریفی نیا1 ، مرتضی اولادنبی 2
1- دانشجوی کارشناسی ارشد ژنتیک انسانی، دانشکده فناوری‌های نوین، گروه ژنتیک پزشکی، دانشگاه علوم پزشکی گلستان، گرگان، ایران
2- استادیار، مرکز تحقیقات ناهنجاری‌های مادرزادی، دانشکده فناوری‌های نوین علوم پزشکی، گروه ژنتیک پزشکی، دانشگاه علوم پزشکی گلستان ،گرگان، ایران ، oladnabidozin@yahoo.com
چکیده:   (7893 مشاهده)

میکروسفالی اولیه اتوزومی مغلوب (Autosomal recessive primary microcephaly: MCPH) یک اختلال نادر نورولوژیکی است که در بدو تولد در نوزادان مبتلا مشاهده می‌شود. معمولاً بیماران از ناتوانی ذهنی متوسط تا شدید رنج می‌برند. در این مطالعه مروری، همه جایگاه‌های شناخته شده تا به امروز اختلال MCPH همراه با نوع و تعداد جهش‌های شناخته شده و بررسی عملکردی و چگونگی شناسایی ژن‌ها به تفکیک و نیز الگوریتم تشخیصی از مقالات و پایگاه داده‌ها همانند OMIM و HGMD جمع‌آوری شده است. تاکنون 23 جایگاه ژنی (MCPH1-23) در جمعیت‌های مختلف در ارتباط با میکروسفالی اولیه شناخته شده است. عملکرد این ژن‌ها شامل جهت‌گیری صحیح دوک‌های میتوزی، مضاعف‌سازی، تشکیل یا عملکرد سانتروزوم، جابه‌جایی وزیکول‌ها، تنظیم رونویسی و پاسخ به آسیب DNA است و براساس تحقیقات بیماری MCPH در جمعیت ایران و پاکستان به دلیل ازدواج خویشاوندی شایع‌تر است. در ایران MCPH1 و MCPH5 شیوع بیشتری دارد.

واژه‌های کلیدی: میکروسفالی، ناتوانی ذهنی، ژن
متن کامل [PDF 370 kb]   (10523 دریافت)    
نوع مطالعه: مروري | موضوع مقاله: ژنتیک
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Sharifinya A, Oladnabi M. A review on the genetics of autosomal recessive primary microcephaly. J Gorgan Univ Med Sci 2019; 21 (4) :1-13
URL: http://goums.ac.ir/journal/article-1-3562-fa.html

شریفی نیا عاطفه، اولادنبی مرتضی. میکروسفالی اولیه اتوزومی مغلوب: یک مطالعه مروری. مجله علمي دانشگاه علوم پزشكي گرگان. 1398; 21 (4) :1-13

URL: http://goums.ac.ir/journal/article-1-3562-fa.html



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