一先天缺牙家系基因芯片检测分析及FGF20基因的检测  

Screening of gene chip and detection of FGF20 in a family with congenital oligodontia

作　　者：陈旭[1,2] 朱姝[1,2] 李畅[1] 邱广蓉[3] 郭艳[4] 

机构地区：[1]中国医科大学口腔医学院儿童口腔科,辽宁沈阳110002 [2]辽宁省口腔医学研究所儿童口腔医学研究室,辽宁沈阳110002 [3]中国医科大学基础医学院遗传学教研室,辽宁沈阳110001 [4]中国医科大学口腔医学院中心实验室,辽宁沈阳110002

出　　处：《口腔医学》2014年第7期500-504,共5页Stomatology

基　　金：沈阳市科学技术计划项目(F11-262-9-09)

摘　　要：目的研究一先天缺牙家系的遗传学特点并探寻其可能的致病基因。方法一先天缺牙家系3代共17人,在患者和家属知情同意及伦理委员会批准的前提下对全部成员进行临床检查和X线辅助检查,抽取其家系成员静脉血,提取DNA,应用基因芯片技术进行基因筛查,对可疑基因FGF20进行聚合酶链式反应(PCR)并测序。结果该非综合征型先天缺牙家系为3代连续遗传,且没有性别差异,外显率为100%,诊断为常染色体显性遗传;基因芯片检测提示FGF20可能为该家族先天缺牙的致病基因,但经PCR检测未发现突变位点。结论先天缺牙的致病机制较复杂,可能是多基因联合控制的疾病;基因芯片技术在筛查牙齿先天缺失家系的致病基因方面仍有一定的局限性。Objective To investigate the genetic characteristics of a family with congenital oligodontia and to find the possible disease - causing genes. Methods There were 3 generations,17 members in all in this family. They accepted to cooperate and signed the informed consent form. The experimental protocol was approved by the Ethical Review Committee of School of Stomatology, China Medical University. Clinical examination was done for all the family members and panoramic radiograhs were taken. The peripheral blood samples were collected from the familial members. DNA samples were analyzed for genetic screening by gene chip technology. The methods of polymerase chain reaction （PCR） amplification and DNA sequencing were used to detect the mutation of suspected FGF20. Results This family with non-syndromic oligodontia was consecutively genetic in three generations without gender difference and the penetrance was 100%. It was diagnosed as an autosomal dominant inheritance; FGF20 might be the possible disease - causing gene from analyses of gene chip detection ; but no mutation was found in FGF20 gene exons and exon - intron junctions as indicated by PCR. Conclusions The pathogenic mechanism of oligodontia is relatively complicated. It might be a polygenic disease which is regulated by multiple genes; gene chip technique has limitation in detecting the disease - causing gene of familial with congenital oligodontia.

关 键 词：先天缺牙 基因芯片 聚合酶链式反应 FGF20 

分 类 号：R597.9[医药卫生—内科学]