جهش پاتوژنیک با فراوانی بالا در ژن CD200R1 در جمعیت بیماران مالتیپل اسکلروزیس استان خوزستان

نوع مقاله : مقاله پژوهشی

نویسندگان

1 گروه ژنتیک، دانشکده علوم، دانشگاه شهید چمران اهواز، اهواز، ایران. مرکز تحقیقات بیوتکنولوژی و علوم زیستی، دانشگاه شهید چمران اهواز، اهواز، ایران

2 گروه ژنتیک، دانشگاه آزاد اسلامی واحد شهرکرد، شهر کرد، ایران.

3 انجمن MS استان خوزستان، دانشکده توانبخشی، دانشگاه علوم پزشکی جندی شاپور اهواز، اهواز، ایران

چکیده

مقدمه: بیماری MS یک بیماری التهابی عصبی است که در آن غلاف‌های میلین سلول‌های عصبی در مغز و ستون فقرات آسیب می‌بینند. در کنار فاکتورهای محیطی، بیماری MS می­تواند در نتیجه اختلال ژنتیکی باشد. در این مطالعه به بررسی فراوانی جهش p.H182fs در ژن CD200R1 پرداخته شد که در یک دوقلوی بیمار MS و از طریق تکنیک تعیین توالی به روش نسل جدید مشاهده شده بود.
روش کار: به همین منظور50 زن مبتلا به بیماریMS و 50 زن سالم بدون سابقه بیماری‎های تحلیل عصبی در خانواده و خویشاوندان در استان خوزستان انتخاب و مورد بررسی قرار گرفتند. پس از استخراج ژنوم قطعه bp243 در ‌بر‌گیرنده جهش p.H182fs تکثیر شد. محصول PCR با توالی­یابی به روش سانجر مورد بررسی قرار گرفت.
نتایج: جهش مذکور در 32% از بیماران به صورت هتروزیگوت و هموزیگوت دیده شد. در گروه کنترل ( افراد نرمال) جهش مذکور مشاهده نگردید.
نتیجه گیری:  این دستاورد ژن CD200R1 را به عنوان یکی از کاندیداها برای پاتوژنز MS حدااقل برای بخشی از بیماران استان خوزستان مطرح می کند.

کلیدواژه‌ها


عنوان مقاله [English]

Highly frequent pathogenic mutation in the CD200R1 gene in population of MS affected women in Khuzestan province

نویسندگان [English]

  • Hamid Galehdari 1
  • Afsoon Taduei Zanganeh 2
  • Nastaran Majdinasab 3
1 Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran. Biotechnology and bioscience research center, Shahid Chamran, University of Ahvaz, Ahvaz, Iran.
2 Department of Genetics, Azad Islamic University, Branch Shahr-e-Kord, Shahr-e-Kord.Iran.
3 Khuzestan Multiple Sclerosis Society, Rehabilitation Faculty, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
چکیده [English]

Introduction: Multiple sclerosis is an inflammatory neuromuscular disease in which the myelin sheaths of the neural cells are damaged in the brain and spinal cord. Aside from environmental factors, MS disease can be a result of genetic impairment. This study examined the frequency of p.H182fs mutation in the CD200R1 gene, which was observed in a MS affected identical twin by whole exome sequencing.
Methods: For this purpose, 50 unrelated women with MS disease and 50 healthy women with negative history for neurodegenerative disorders in their families and relatives were selected to examine the frequency of the detected change. After extracting the genome and designing the primer, amplification of desired exon was performed by PCR resulting to a bp243 fragment containing the mutation p.H182fs. PCR product was sequenced by Sanger method, subsequently.
Results: The mutation was present in 32% of patients in homozygous or heterozygous mode. No healthy women showed the mentioned mutation.
Conclusion: This implies the achievement of the CD200R1 gene as one of the candidates for MS pathogenesis, at least for a part of patients in province Khuzestan.

کلیدواژه‌ها [English]

  • Multiple Sclerosis
  • Mutation
  • CD200R1 gene
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