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

2013, International Journal of Pediatric Otorhinolaryngology

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,