摘要
目的:分析TGFβ2基因多态性、孕妇吸烟与非综合征性唇腭裂(NSCLP)发生的关联。方法:272例非综合征性唇裂伴或不伴腭裂(CL/P)患者和251例单纯性腭裂(CPO)患者为病例组,312例正常人为对照组;用PCR-SSCP和基因测序方法分析TGFβ2基因多态性,通过询问方式调查母亲孕期的吸烟情况;应用SAS软件对数线性模型统计分析它们之间的相关性。结果:CL/P、CPO和对照组均扩增出322bp的TGFβ2片段;SS-CP分析发现TGFβ2存在3个等位基因(A1、A2、A3),分别含有7、8、9个ACA重复区;TGFβ2基因多态性与CL/P、CPO发生的相关性分析,P<0.0001;孕妇吸烟与CL/P、CPO发生的相关性分析,P<0.0001;孕妇吸烟和TGFβ2多态性在CL/P及CPO发生中交互作用分析,P>0.05。结论:TGFβ2基因多态性、孕妇吸烟与非综合征性唇腭裂发生有相关性;吸烟、TGFβ2多态性在NSCLP发生过程中无交互作用。
Objective：To study the association of TGFβ2 polymorphisms and maternal smoking with the occurrence of nonsyndromic cleft lip and palate （NSCLP）. Methods：TGFβ2 genes were amplified from peripheral leukocytes by means of PCR in 272 cases of nonsyndromic cleft lip with or without palate（ CL/P）, 251 of cleft palate only（CPO） and 312 of unrelated controls in Jilin Province, PCR products were analyzed by single-stranded conformation polymorphism（SSCP） and DNA sequencing. Maternal smoking was investigated. The association of TGFβ2 polymorphisms, maternal smoking with the occurrence of CL/P and CPO was analyzed by SAS statistic system. Results：The 322 bp PCR product of TGFβ2 was amplified from CL/P, CPO and control samples; SSCP analysis showed three alleles of TGFβ2;sequencing results showed that allelel, allele2 and allele3 contained seven, eight and nine ACA repeats respectively. The statistic analysis showed that TGFβ2 polymorphisms or maternal smoking was associated with the occurrence of CL/P and CPO respectively（ P 〈0. 000 1 ） , in the occurrence of CL/P or CPO TGFβ2 polymorphisms was not correlated with maternal smoking （ P 〉 0.05 ）. Conclusion ： TGFβ2 polymorphisms and maternal smoking during pregnancy are associated with the occurrence of CL/P and CPO. TGFβ2 polymorphisms have no interaction with maternal smoking.
出处
《实用口腔医学杂志》
CAS
CSCD
北大核心
2006年第6期827-830,共4页
Journal of Practical Stomatology
