Common Mutations of the Methylenetetrahydrofolate Reductase (MTHFR) Gene in Non-Syndromic Cleft Lips and Palates Children in North-West of Iran | ||
| Iranian Journal of Otorhinolaryngology | ||
| مقاله 2، دوره 27، شماره 1، فروردین 2015، صفحه 7-14 اصل مقاله (291.1 K) | ||
| نوع مقاله: Original | ||
| شناسه دیجیتال (DOI): 10.22038/ijorl.2015.3224 | ||
| نویسندگان | ||
| Shahin Abdollahi-Fakhim1؛ Mehrdad Asghari Estiar2؛ Parizad Varghaei3؛ Mahdi Alizadeh Sharafi4؛ Masoud Sakhinia5؛ Ebrahim Sakhinia* 6 | ||
| 1Department of Pediatric Otorhinolaryngology, Children’s Hospital, Tabriz University of Medical Sciences, Tabriz, Iran. | ||
| 2Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. | ||
| 3Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran | ||
| 4Tabriz Genetic Analysis Center (TGAC), Tabriz University of Medical Sciences, Tabriz, Iran. | ||
| 5Faculty of Medicine, University of Liverpool, Liverpool, United Kingdom. | ||
| 6Tuberculosis and Lung Disease Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. | ||
| چکیده | ||
| 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] A1298C and C677T) 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 65 affected children, 130 respective parents and 50 healthy individuals between 2009 and 2012 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 C677T and A1298C mutations for the MTHFR gene. Results: There was a significant difference in the rates of the C677T mutation when affected patients and their fathers were compared with the control group (odds ratio [OR]=0.44) (OR=0.64). However, there was no significant difference observed in the rate of this mutation between the patients’ mothers and the control group (OR=1.35). In addition, the abnormality rate was higher in patients with the A1298C 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=0.26; Mothers, OR=0.65; Children, OR=0.55). No significant difference was seen in the rate of the polymorphism C677T in its CC, when the affected children and their parents were compared with the control group. However, there was a significant difference in the A1298C mutation. Conclusion: An association was seen between the A1298C mutation and cleft lip and cleft palate abnormalities in Iran. However, there seems to be a stronger relationship between the C67TT 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. | ||
| کلیدواژهها | ||
| A1298C mutation؛ Cleft lip؛ Cleft palate؛ C677T mutation؛ MTHFR | ||
| مراجع | ||
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