The investigation of ZIC5 gene mutations in patients with neural tube defects (spina bifida)

Neural tube defects (NTD) are a group of heterogenous and complex congenital anomalies of the central nervous system (CNS). Neural tube of five closure sites are controlled by different genes. Mother's malnutrition, high fever, hypertension, diabetes mellitus, obesity, using drugs and environmental pollutants are leading to the closure of theneural tube incorrect. Analysis demonstrate in nacaft experiment animals that ZIC5 gene plays a role in neural tube closure. ZIC5 deficiency causes many anomalies which contain neural tube defects in mice. Mutation screening hasn?t been done for ZIC5 gene in patients with NTD in humans. In this study, it has been intented to investigate mutations in ZIC5 gene in patients with spina bifida. In this study, isolation of DNA were performed from 100 patients who had beendiagnosed with spina bifida and 100 healthy individuals?s peripheral blood samples. DNA sequencing method was used for the screening of mutations in ZIC5 gene for two exon regions. DNA sequencing was performed from PCR products using the exon-specific primers. G ? A change has been detected in thirty eight basis in untranslated region (UTR) of first exon of the gene. There was no mutation or polymorphism for second exon. G ? A change, the rates of GG, AG and AA genotypes 100 NTD disease were calculated as 68 in 100 (%68) GG genotypes, 18 in 100 (%18) AG genotypes, 14 in 100 (%14) AA genotypes, The rates of TT, TA and AA genotypes 100 control groups were calculated as 66 in 100 (%66) GG genotypes, 15 in 100 (%15) AG genotypes, 19 in 100 (%19) AA genotypes. There were no statistically significant differences between the patient and control groups with regard to genotypes and allel frequencies (X2= 1.06, df=2, p=0.5; X2= 0.008, df=1,p=0.93). In conclusion, multifactoriel prosesses including genetic factors play role in etiopathogenesis of NTD. Results of the present study indicate that alterations in ZIC5 allel frequencies may influence development of NTD and that environmental factors may contribute to these alterations. Further studies are required to enlighten etiology of SB.Keywords : Neural tube defect, ZIC5 gene, Spina bifida, kongenital anomaly