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Create: 2025-05-28 Update: 2025-07-10 11:07:16

🧬 فیبروز سیستیک (CF)، یکی از اختلالات ارثی جدی و کشنده است که ناشی از اختلال عملکرد ژن تنظیم‌کننده غشایی فیبروز سیستیک (CFTR) است. این ژن پروتئینی را رمزگذاری می‌کند که به تنظیم انتقال یون‌ها ازطریق غشاهای سلولی کمک می‌کند. پروتئین CFTR به‌ویژه در تنظیم انتقال یون‌های سدیم و کلرید در سلول‌های اپیتلیال نقش دارد.

🔬 تحقیقات اخیر نشان داده‌اند که علاوه‌بر ژن CFTR، تعدادی از ژن‌های دیگر نیز با فیبروز کیستیک مرتبط هستند. این ژن‌ها از طریق مطالعات ارتباط در سطح ژنوم، توالی‌یابی کل اگزوم و مطالعات توالی‌یابی کل ژن شناسایی شده‌اند.

🩺 در این اینفوگرافیک به برخی از این ژن‌ها و نقش‌های آن‌ها اشاره شده‌است.

🗒این اطلاعات می‌تواند به درک بهتر مکانیسم‌های مولکولی مرتبط با فیبروز سیستیک کمک کند و زمینه‌ساز تحقیقات بیشتر در این حوزه باشد.

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🧬 فیبروز سیستیک (CF)، یکی از اختلالات ارثی جدی و کشنده است که ناشی از اختلال عملکرد ژن تنظیم‌کننده غشایی فیبروز سیستیک (CFTR) است. این ژن پروتئینی را رمزگذاری می‌کند که به تنظیم انتقال یون‌ها ازطریق غشاهای سلولی کمک می‌کند. پروتئین CFTR به‌ویژه در تنظیم انتقال یون‌های سدیم و کلرید در سلول‌های اپیتلیال نقش دارد.

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