INVESTIGATION OF FOLATE PATHWAY GENE POLYMORPHISMS IN NON SYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE IN SOUTH INDIAN POPULATION

Abstract

This thesis describes demographic and associated anomalies in cleft children attending outpatient department of hospital for surgery in South India Two thousand and five children were examined for associated anomalies and syndromes The CLP and CL were more common in males and CPO was more common in females The results of the present study provide demographic details of the cleft children in the South India In addition to this the association of important polymorphisms from genes encoding folate homocysteine and methionine metabolism detoxification with nonsyndromic cleft lip and palate in the South Indian population was studied The subjects included 142 cases with nonsyndromic oral clefts and 141 control individuals without clefts or family history of clefting The genotyping was done using published PCRRFLP methods The associations between genotypes alleles and haplotypes of the polymorphic sites and nonsyndromic clefts were then analyzed using a casecontrol study The strength of the association between gene variants and nonsyndromic cleft lip and palate was estimated using the logistic regression using the chisquare test The genotype frequencies were consistent with HardyWeinberg equilibrium in the control group for all SNPs except MTRR A66G polymorphism newlineThis thesis describes demographic and associated anomalies in cleft children attending outpatient department of hospital for surgery in South India Two thousand and five children were examined for associated anomalies and syndromes The CLP and CL were more common in males and CPO was more common in females The results of the present study provide demographic details of the cleft children in the South India In addition to this the association of important polymorphisms from genes encoding folate homocysteine and methionine metabolism detoxification with nonsyndromic cleft lip and palate in the South Indian population was studied The subjects included 142 cases with nonsyndromic oral clefts and 141 control individuals without clefts or family history of cleftin