ABSTRACT
<p><b>OBJECTIVE</b>To study the association of transforming growth factor-alpha (TGF-alpha gene polymorphism and environment factors with nonsyndromic cleft lip with or without cleft palate (NSCLP) in Han nationality.</p><p><b>METHODS</b>Data related to infection, drug intake and folic acid supplement during pregnancy were gained through investigation of mothers. Polymerase chain reaction combined with restrict enzyme digestion was used to detect the target gene variation in 199 patients with NSCL/P and 203 healthy controls. Analysis was carried on the genotype and infection,drug intake and folic acid supplement.</p><p><b>RESULTS</b>The C2 allele frequency in patients with NSCL/P was significantly higher than that in healthy controls. There was a significant increase of patients with NSCL/P in pregnant women exposed to infection, drug intake and folic acid deficiency. There was an interaction between C1C2 genetype and infection, drug intake and folic acid supplement.</p><p><b>CONCLUSION</b>TGF-alpha gene polymorphism is associated with NSCL/P. Infection, drug intake and folic acid supplement during pregnancy were associated with the occurrence of NSCL/P. Individuals containing C2 allele were more sensitive to infection, drug intake and folic acid deficiency.</p>
Subject(s)
Female , Humans , Pregnancy , Alleles , Cleft Lip , Cleft Palate , Ethnicity , Gene Frequency , Genotype , Polymerase Chain Reaction , Polymorphism, Genetic , Transforming Growth FactorsABSTRACT
<p><b>OBJECTIVE</b>To study the association of TGF-alpha gene polymorphism and non-syndromic cleft lip with cleft palate in Shandong province.</p><p><b>METHODS</b>Polymerase chain reaction combined with restrict enzyme digestion was used to detect the target gene variation in 98 patients with non-syndromic cleft lip with cleft palate and 101 healthy controls.</p><p><b>RESULTS</b>The C2 allele frequency in patients with non-syndromic cleft lip with cleft palate was significantly higher than that in healthy controls. The genotype frequency in patients with positive family history was significantly higher than that without positive family history.</p><p><b>CONCLUSION</b>TGF-alpha gene polymorphism is closely associated with non-syndromic cleft lip with cleft palate in Shandong, especially in patients with positive family history.</p>