同源异型盒MSX1基因多态性、孕妇吸烟与非综合征性唇腭裂的相关性研究  

ASSOCIATION OF MSX1 POLYMORPHISMS AND MATERNAL SMOKING SMOKING WITH OCCURRENCE OF NONSYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE AND CLEFT PALATE ONLY

作　　者：张力[1] 唐君玲[2] 古亚兰[1] 梁尚争[1] 

机构地区：[1]泸州医学院附属口腔医院颌面外科,四川泸州646000 [2]泸州医学院附属医院血液内科,四川泸州646000

出　　处：《泸州医学院学报》2008年第2期144-147,共4页Journal of Luzhou Medical College

基　　金：四川省教育厅自然科学科研基金重点项目(2004A065)

摘　　要：目的:分析同源异性盒基因(muscle segment homeobox gene,MSX)1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:采用聚合酶链反应(polymerase chain reaction,PCR)和单链构象多态性(single-strand conformationpolymorphism,SSCP)方法,以45名健康人为对照,对非综合征性唇腭裂患者共45例作为研究对象,分析同源异型盒基因MSX1多态性;通过询问方式调查母亲孕期的吸烟情况;分析它们之间的相关性。结果:SSCP分析显示非综合征性唇裂NSCLP患者(45例)与健康对照组(45例)样本的电泳速率相同;提示无多态性存在。结论:同源异型盒基因MSX1多态性、孕妇吸烟与非综合征性唇腭裂发生无相关性;吸烟、同源异型盒基因MSX1多态性在NSCLP发生过程中无交互作用。Objective： To study the association of MSX1 polymorphism and maternal smoking with the occurrence of nonsyndromic cleft lip and cleft palate. Methods：Blood samples were taken from CL/P, CPO and unrelated normal subjects.Genome DNA was extracted from peripheral leukocyte of these blood samples,and was used as template to amplify desired gene fragment of MSX1 exons 1 by means of PCR. The PCR products were examined by single-stranded conformation polymorphism （SSCP）. The MSX1 exons 1 polymorphism was examined by sequencing, if mutations were found. Maternal smoking was investigated on questioning.Results：SSCP analysis showed that PCR products of two groups had same electrophoretic migroction rates.MSX1 genes of exon 1 mutation was not found.Conclusion： No correlation was found between MSX1 genes in exon 1 and nonsyndromic cleft lip with or without cleft palate. MSX1 genes in exon 1 may not be a key gene （susceptibility gene） in nonsyndromic cleft lip with or without cleft palate. MSX1 genes in exon 1 have no interaction with maternal smoking.

关 键 词：MSX1 非综合征性唇腭裂 多态性 吸烟 

分 类 号：Q754[生物学—分子生物学]