Determination of Methylenetetrahydrofolate Reductase (MTHFR) gene polymorphism in Turkish patients with nonsyndromic cleft lip and palate (original) (raw)

Orofacial clefts are common congenital defects, with a birth prevalence of approximately 1/1000 in Caucasians [1,2]. Prevalence rate varies according to geographical origin [3], sex [4] racial background and ethnicity [5], socioeconomic status [6]. Orofacial clefts are classified based on the presence of other congenital anomalies: nonsyndromic cleft lip with or without cleft palate, nonsyndromic cleft palate only, syndromic cleft lip with or without cleft palate and syndromic cleft palate only about 70% of cleft lip with or without cleft palate cases are nonsyndromic form and syndromic cleft containing part of 30% can be seen together with more than 300 defined mendelian syndromes and uncategorized syndromes [7,8]. Nonsyndromic cleft lip with or without cleft palate (nsCL/P, MIM 119530) is one of the most common birth defects, involving genetic and environmental factors [9-11]. Environmental factors such as cigarette smoking and alcohol consumption, intake antiepileptic drugs, inadequate nutrition especially inadequate folate and B6 B12 intake during pregnancy [12-16]. To identify genetic factors, used linkage and association analyses. Several loci or candidate genes have been identified in nsCL/P by these analyses [11] at the linkage technique, chromosomes of family members with CL/P make comparison by looking at chromosomes of unaffected family members [17]. For association technique, investigations make on only cases with CL/P [7]. There are candidate genes that studied to investigate of CL/P genetically: MTHFR,