同源异型盒基因1的基因多态性与非综合征性唇腭裂的关联研究  

The research based on next generation sequencing of the association between muscle segment homeobox 1 gene and non-syndromic cleft lip with or without cleft palate

作　　者：居来提.吐尔逊 古丽[1] 艾尼瓦尔.米吉提 阿地力.莫明[1] 

机构地区：[1]新疆医科大学第一附属医院颌面外科,乌鲁木齐830054

出　　处：《国际口腔医学杂志》2015年第5期510-513,共4页International Journal of Stomatology

基　　金：国家自然科学基金(81260163)

摘　　要：目的探讨同源异型盒基因1(MSX1)与非综合征性唇腭裂在新疆地区维吾尔人群中的相关性。方法选择世居新疆的维吾尔族非综合征性唇腭裂患者100例为病例组,60例健康人群为对照组,用二代测序技术对MSX1基因前500 bp、5’非翻译区(UTR)和编码区进行测序分析。结果基因测序共发现5个单核苷酸多态性(SNP)位点:rs36059701、rs80120240、rs1042484、rs34165410、rs8670。病例对照分析结果显示,以上位点等位基因与基因型分布在病例组与对照组间的差异均无统计学意义(P>0.05)。以上5个SNP的连锁不平衡分析结果显示,未能证实其存在连锁不平衡(r2<0.8)。结论在新疆维吾尔人群中,MSX1基因与非综合征性唇腭裂的发生未发现相关性。Objective To investigate the relationship between muscle segment homeobox（MSX） 1 and non-syndromic cleft lip with and without cleft palate（NSCL/P） in Xinjiang Uyghur population. Methods One hundred Uyghur NSCL/P patients from Xinjiang were included as the case gruop and 60 healthy individuals as the control group. Next generation sequencing was used to detect 500 bp around gene, 5＇ untranslated region（UTR） and coding region of MSX 1. Results Five single nucleotide polymorphisms were found： rs36059701, rs80120240, rs1042484, rs34165410, rs8670. The genotype distribution and the frequency of alleles were no significant difference in case group and control group（P〉0.05） and significant evidence of linkage disequilibrium were not found in the 5 loci（ta〈0.8）. Conclusion The association between MSX1 gene polymorphisms and NSCL/P in Xinjiang Uygttr people was not observed.

关 键 词：非综合征性唇裂伴或不伴腭裂 同源异型盒基因1 单核苷酸多态性 

分 类 号：R782.2[医药卫生—口腔医学]