单纯性多数牙缺失家系的AXIN2基因突变分析

发布时间：2018-03-04 09:13

  本文选题：多个牙缺失　切入点：AXIN　出处：《口腔疾病防治》2016年12期 　论文类型：期刊论文

【摘要】：目的通过对AXIN2基因多态性与单纯性多数牙先天缺失关系的探讨,寻找该病发病的可能基因因素。方法对单纯性多数牙先天缺失家系中患者进行临床和实验室相关检查;而后提取基因组DNA,通过RT-PCR方法对AXIN2基因的外显子进行扩增、测序,同时分析基因突变类型。结果 DNA测序显示,在AXIN2基因的3号外显子及附近的内含子区2例患者出现3个相同类型的基因突变,分别是:c.1365AG(p.Pro455=),c.956+16AG(Ⅱ-1:纯合型;Ⅲ-1:杂合型),c.1200+71AG(纯合型),同时先证者的母亲(Ⅱ-2)出现c.1365AG和c.1200+71AG的杂合突变类型。经生物信息软件分析认为均是多态性位点。结论 AXIN2基因的c.956+16AG,c.1365AG和c.1200+71AG突变可能与该家系的单纯性多数牙齿缺失密切相关,但AXIN2在多数牙缺失发生发展各阶段的确切作用还需要进一步的研究。
[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，

本文编号：1565030