Study On Association With Tgfα Gene And Nonsyndromic Cleft Lip With Or Without Palate

ObjectiveCleft Lip and Palate(CLP) is one of common birth defects.Its causes are complicated and still uncertain.Previous research suggests the reasons of CLP may be related to genetic and environmental factors.Genetic reasons play an important role in the forming of CLP.Research the specific function of genetic factors and find a filter gene of CLP will play an important role in its prevention and treatment.This research investigated the association with transforming growth factorα(TGFα) gene which is one of candidate incidence genes of CLP TaqⅠpolymorphisms and nonsyndromic cleft lip with or without palate(NSCL/P) in the Han population of Henan province. Hoping to accumulate experience for the research of CLP.MethodTGFαgene was examined by polymerase chain reaction and restriction fragment length polymorphisms(PCR-RFLPs) techniques in 96 patients with NSCL/P and 43 healthy volunteers:after genomic DNA extraction,design specific PCR primers to amplify TGFαgene TaqⅠgene fragment,and then digested with restriction endonuclease,identify patients with different genotypes according to the different electrophoresis patterns,calculate allele frequency based on genotype,applyχ~2 tests to see the frequency differences between different groups.ResultsTwo kinds of allele 178bp(C1) and 174bp(C2) were both detected in NSCL/P group and healthy control.C1 allele frequency was 88%and C2 allele frequency was 12%in NSCL/P group,while 94%and 6%in healthy control.The allele frequency was no statistical significance between NSCL/P and healthy control(P=0.092＞0.05),but there was statistical significance between the CL+P group of NSCL/P and contrast group(P=0.022＜0.05).There was no statistical significance between the male and female groups(P=0.742＞0.05).There was no statistical significance between the groups classified by family genetic history(P=0.392＞0.05).ConclusionsTGFαgene maybe not major related genes of NSCL/P's formation,but it may be involved in some more serious type of NSCLP's formation and was one of participation gene.TGFαgene maybe not NSCL/P's related family genetic gene. TGFαgene maybe not related genes of NSCL/P's different incidence betwcen male and female.