非综合征性唇腭裂与同源异型盒基因1多态性的相关性研究

Association of muscle segment homeobox gene 1 polymorphisms with nonsyndromic cleft lip with or without cleft palate

目的采用聚合酶链反应-单链构象多态性(PCR-SSCP)方法研究同源异型盒基因(MSX)1外显子1的编码区,探讨非综合征性唇腭裂(NSCL/P)患者MSX1基因外显子1的编码区内是否存在基因突变。方法采用聚合酶链反应(PCR)和单链构象多态性(SSCP)方法,以45名健康人为对照组,45名NSCL/P患者作为研究对象,分析MSX1基因多态性。结果SSCP分析显示NSCL/P患者(45名)与对照组(45名)样本的电泳速率相同,提示无多态性存在。结论MSX1基因外显子1未发现多态性的存在,其与NSCL/P患者之间无明显相关性。

Objective Muscle segment homeobox gene （MSX）1 has been proposed as a gene in which mutations may contribute to nonsyndromic cleft lip with or without cleft palate（NSCL/P）. To study MSX1 polymorphisms in NSCL/ P by means of polymerase chain reaction-single-strand conformation polymorphism （PCR-SSCP）, and investigate the association of MSX1 exons 1 polymorphisms with NSCL/P. Methods DNA were extracted from blood samples from NSCL/P and unrelated normal subjects. Genome DNA from peripheral leukocyte with these blood samples were extracted, which was used as template to amplify desired gene fragment of MSX1 exons 1 by means of polymerase chain reaction（PCR）. The PCR products were examined by single-strand conformation polymorphism（SSCP）. The MSX1 exons 1 polymorphisms were examined by sequencing if mutations were found. Results MSX1 genes of exon 1 mutation Was not been found in the NSCLfP and unrelated normal subjects by SSCP. Conclusion No correlation between MSX1 exon 1 and NSCLfP was found. MSX1 exon 1 may not be a key gene（susceptibility gene） in NSCL/P.