analysis of mthfr gene c.677c>t and c.1298a>c polymorphisms in iranian patients with non-syndromic cleft lip and palate.
نویسندگان
چکیده
non-syndromic cleft lip with or without cleft palate (nscl/p) is one of the most common congenital abnormalities of the orofacial region with a multifactorial etiology. the present study aimed to investigate the association of two common polymorphisms of methylenetetrahydrofolate reductase (mthfr) gene (c.677c>t and c.1298a>c) with the occurrence of nscl/p in an iranian population.forty-five nscl/p patients, 43 mothers of patients, and 101 unrelated controls participated in the present study. analysis of c.677c>t and c.1298a>c polymorphisms in mthfr gene was conducted using polymerase chain reaction and restriction enzyme digestions.there was no statistical difference in genotype and allele frequencies for c.677c>t variants between patients or their mothers and the control group. however, differences in the frequencies of alleles and genotypes of c.1298a>c polymorphism were statistically significant between patients and control group (p=0.01 for alleles and p=0.005 for genotypes). the odds ratios (or) for the cc versus aa homozygotes were 6.1 (95% ci 1.8-20.5) and 4.2 (95% ci 1.1-15.4), in patients and mothers, respectively.we found no association between genetic polymorphism of mthfr c.677c>t and the risk of nscl/p in the population studied. yet the results suggested that c.1298a>c polymorphism of mthfr gene may be a risk factor for the occurrence of nscl/p in the iranian population.
منابع مشابه
Incidence Assessment of MTHFR C677T and A1298C Polymorphisms in Iranian Non-syndromic Cleft Lip and/or Palate Patients
Background and aims. The aim of the present study is to determine the incidence of MTHFR C677 T and A1298C muta-tions in Iranian patients with cleft lip and/or cleft palate. Materials and methods. We screened 61 Iranian patients with cleft lip and/or cleft palate for mutations in the two alleles of MTHFR gene associated with cleft lip and/or palate: A1298C and C677T, using Polymerase Chain Reac...
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چکیده ندارد.
15 صفحه اولincidence assessment of mthfr c677t and a1298c polymorphisms in iranian non-syndromic cleft lip and/or palate patients
background and aims. the aim of the present study is to determine the incidence of mthfr c677 t and a1298c mutations in iranian patients with cleft lip and/or cleft palate. materials and methods. we screened 61 iranian patients with cleft lip and/or cleft palate for mutations in the two alleles of mthfr gene associated with cleft lip and/or palate: a1298c and c677t, using polymerase chain react...
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Recently, we reported a whole genome scan in sib pairs with non-syndromic cleft lip and palate (CLP), highlighting several regions as possible susceptibility loci, one of which is situated on 1p36. This region is of particular interest in CLP as it harbours the gene encoding MTHFR, an enzyme fundamental in the metabolism of the biologically active form of folic acid. Dietary folic acid deficien...
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عنوان ژورنال:
iranian journal of public healthجلد ۴۳، شماره ۶، صفحات ۸۲۱-۷
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