Association Of TGFβ2 Polymorphisms, Maternal Smoking With CL/P And CPO

Association of TGFβ2 polymorphisms , maternal smoking with CL/P and CPOObjective To study TGFβ2 polymorphisms in nonsyndromic cleft lipwith or without palate (CL/P or NSCLP) and cleft palate only(CPO) by means of DNA-PCR-SSCP, and investigate theassociation of TGFβ2 polymorphisms with CL/P and CPO. Inaddition, we made a survey of maternal smoking to evaluate theassociations of maternal smoking with CL/P and CPO, andanalyzed the interaction between TGFβ2 polymorphisms andmaternal smoking in CL/P and CPO.Material and methods1. collected blood samples and made a survey of maternal smoking in150 cased, including 70 CL/P, 40 CPO, and 40 fracture cases as control.2. We extracted genome DNA from peripheral leukocyte with these blood samples, which was used as template to amplify desired gene fragment of TGFβ 2 by means of PCR.3. The PCR products were examined by single-stranded - 39 -吉林大学硕士论文 conformation polymorphism (SSCP)4. We analyzed the the associations of TGFβ2 polymorphisms, maternal smoking with CL/P and CPO using chi-square test statistics.5. We examined the TGFβ2 polymorphisms by sequencing.Results We amplified 322bp fragments of of TGFβ2 from CL/P,CPO and control samples. In SSCP analysis, we find threealleles of TGFβ2, Sequencing results show that Alleles 1, 2and 3of the gene contain seven, eight and nine ACA repeats respectively.After analyzing with the chi-square test, the results showed therehad association of TGFβ2 polymorphisms and maternal smokingwith CL/P and CPO, P＜0.05 in all the groups , while there hadno interaction between TGFβ2 polymorphisms and maternalsmoking in CL/P and CPO occurance, P＞0.05.Conclusion There had associations of TGFβ2 polymorphisms andmaternal smoking with NSCLP and CPO while there was nointeraction between TGFβ2 and maternal smoking during thedevelopment of palate.