Common Mutations of the Methylenetetrahydrofolate Reductase (MTHFR) Gene in Non-Syndromic Cleft Lips and Palates Children in North-West of Iran
Publish place: Iranian Journal of Otorhinolaryngology، Vol: 27، Issue: 1
Publish Year: 1394
نوع سند: مقاله ژورنالی
زبان: English
View: 140
This Paper With 8 Page And PDF Format Ready To Download
- Certificate
- من نویسنده این مقاله هستم
استخراج به نرم افزارهای پژوهشی:
شناسه ملی سند علمی:
JR_IJOTO-27-1_001
تاریخ نمایه سازی: 11 بهمن 1400
Abstract:
Introduction: Cleft lips and cleft palates are common congenital abnormalities in children. Various chromosomal loci have been suggested to be responsible the development of these abnormalities. The present study was carried out to investigate the association between the suspected genes (methylenetetrahydrofolate reductase [MTHFR] A۱۲۹۸C and C۶۷۷T) that might contribute into the etiology of these disorders through application of molecular methods. Materials and Methods: This cross-sectional and explanatory study was carried out on a study population of ۶۵ affected children, ۱۳۰ respective parents and ۵۰ healthy individuals between ۲۰۰۹ and ۲۰۱۲ at Tabriz University of Medical Sciences, IR Iran. After DNA extraction, amplification refractory mutation system–polymerase chain reaction (ARMS-PCR) and restriction fragment length polymorphism (RFLP)-PCR were used respectively to investigate the C۶۷۷T and A۱۲۹۸C mutations for the MTHFR gene. Results: There was a significant difference in the rates of the C۶۷۷T mutation when affected patients and their fathers were compared with the control group (odds ratio [OR]=۰.۴۴) (OR=۰.۶۴). However, there was no significant difference observed in the rate of this mutation between the patients’ mothers and the control group (OR=۱.۳۵). In addition, the abnormality rate was higher in patients with the A۱۲۹۸C mutation and their parents, when compared with the control group. This abnormality rate was higher for the affected children and their fathers in comparison with their mothers (Fathers, OR=۰.۲۶; Mothers, OR=۰.۶۵; Children, OR=۰.۵۵). No significant difference was seen in the rate of the polymorphism C۶۷۷T in its CC, when the affected children and their parents were compared with the control group. However, there was a significant difference in the A۱۲۹۸C mutation. Conclusion: An association was seen between the A۱۲۹۸C mutation and cleft lip and cleft palate abnormalities in Iran. However, there seems to be a stronger relationship between the C۶۷TT mutation and these abnormalities in other countries, which could be explained by racial differences. Moreover, this association was more notable between the affected children and their fathers than their mothers. The findings in this study may be helpful in future studies and screening programs.
Keywords:
Authors
Shahin Abdollahi-Fakhim
Department of Pediatric Otorhinolaryngology, Children’s Hospital, Tabriz University of Medical Sciences, Tabriz, Iran.
Mehrdad Asghari Estiar
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Parizad Varghaei
Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
Mahdi Alizadeh Sharafi
Tabriz Genetic Analysis Center (TGAC), Tabriz University of Medical Sciences, Tabriz, Iran.
Masoud Sakhinia
Faculty of Medicine, University of Liverpool, Liverpool, United Kingdom.
Ebrahim Sakhinia
Tuberculosis and Lung Disease Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
مراجع و منابع این Paper:
لیست زیر مراجع و منابع استفاده شده در این Paper را نمایش می دهد. این مراجع به صورت کاملا ماشینی و بر اساس هوش مصنوعی استخراج شده اند و لذا ممکن است دارای اشکالاتی باشند که به مرور زمان دقت استخراج این محتوا افزایش می یابد. مراجعی که مقالات مربوط به آنها در سیویلیکا نمایه شده و پیدا شده اند، به خود Paper لینک شده اند :