title: Prevalence of cystathionine  beta synthase gene mutation 852Ins68 as a possible risk for neural tube defects  in eastern India.
abstract: Cystathionine  beta synthase gene (CβS)  catalyzes the condensation of homocysteine with serine, forming cystathionine  by the transsulfuration pathway. Disruption of CβS enzyme activity due to defective folic  acid metabolism increases the risk factor for neural tube defects. We evaluated  the CβS gene  mutation in 25 children with neural tube defects (NTDs), including lumbosacral  and thoracic myelomeningocele and open NTDs and mothers of cases, along with 25  healthy children and their mothers, serving as controls. Genomic DNA was  isolated to assess the polymorphism of 852Ins68 in the CβS gene using PCR-RFLP analysis and  nucleotide sequencing techniques. The 68-bp insertion was observed in one of  the 25 NTD cases (lumbosacral myelomeningocele), and in two of the mothers of  NTD cases. Statistical analysis was carried out using the Fischer exact probability  test, which showed a lack of significance (P > 0.05), but the odds ratio of  2.08 with 95% confidence interval of 0.17-24.6 in NTDs mother was quite high  because of the small sample size. However, the study was further extended to  find out the involvement of specific nucleotide sequences, which again  confirmed the 852Ins68 insertion and replacement of nucleotides (TCCAT to GGGG)  in lumbosacral myelomeningocele (due to other category of NTDs), suggesting  that it could be an independent risk factor for birth defects, including NTDs.
authors: Center of Experimental Medicine and Surgery, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India. draksaxena1@rediffmail.com
authors: A K
authors: AK
authors: Saxena
authors: J
authors: J
authors: Gupta
authors: S
authors: S
authors: Pandey
authors: A N
authors: AN
authors: Gangopadhaya
authors: L K
authors: LK
authors: Pandey
mesh_terms: D000328:Adult; D002675:Child, Preschool; D003541:Cystathionine beta-Synthase / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D007194:India / Q000453:epidemiology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008591:Meningomyelocele / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D016254:Mutagenesis, Insertional; D009436:Neural Tube Defects / Q000201:enzymology / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D015995:Prevalence; D012307:Risk Factors
chemical_list: D003541:Cystathionine beta-Synthase