本文選題：多個牙缺失　切入點：AXIN　出處：《口腔疾病防治》2016年12期 　論文類型：期刊論文

【摘要】：目的通過對AXIN2基因多態(tài)性與單純性多數(shù)牙先天缺失關(guān)系的探討,尋找該病發(fā)病的可能基因因素。方法對單純性多數(shù)牙先天缺失家系中患者進行臨床和實驗室相關(guān)檢查;而后提取基因組DNA,通過RT-PCR方法對AXIN2基因的外顯子進行擴增、測序,同時分析基因突變類型。結(jié)果 DNA測序顯示,在AXIN2基因的3號外顯子及附近的內(nèi)含子區(qū)2例患者出現(xiàn)3個相同類型的基因突變,分別是:c.1365AG(p.Pro455=),c.956+16AG(Ⅱ-1:純合型;Ⅲ-1:雜合型),c.1200+71AG(純合型),同時先證者的母親(Ⅱ-2)出現(xiàn)c.1365AG和c.1200+71AG的雜合突變類型。經(jīng)生物信息軟件分析認為均是多態(tài)性位點。結(jié)論 AXIN2基因的c.956+16AG,c.1365AG和c.1200+71AG突變可能與該家系的單純性多數(shù)牙齒缺失密切相關(guān),但AXIN2在多數(shù)牙缺失發(fā)生發(fā)展各階段的確切作用還需要進一步的研究。
[Abstract]:Objective to explore the relationship between the polymorphism of AXIN2 gene and the congenital deletion of simple majority teeth, and to find out the possible genetic factors of the disease. Then the genomic DNA was extracted, the exon of AXIN2 gene was amplified by RT-PCR method, and the gene mutation type was analyzed. In the exon 3 of the AXIN2 gene and in the nearby intron region, two patients had the same type of gene mutation, namely: 1 c. 1365 AGp.Pro455All. 956 (鈪，

本文編號：1565030