EDA基因在4个少汗型外胚层发育不全家系中的检测及分析
发布时间：2018-07-16 14:30
【摘要】：目的对4个少汗型外胚层发育不全家系的EDA基因进行测序分析,研究突变的位置、类型,为临床诊断提供遗传学依据。方法提取先证者及其亲属的基因组DNA,其中患者5人,无症状者12人,另外抽取100名无先天缺牙家族史的正常成人外周血,提取基因组DNA作为对照,设计EDA基因8个外显子的引物,通过聚合酶链反应和DNA测序的方法与正常序列比对。结果 4个家系的患者均存在EDA基因不同位点的突变,分别为c.466CT、c.663-697缺失、c.587-615缺失、c.878TG,携带者存在杂合突变,正常对照不存在以上突变。结论 EDA基因的c.466CT、c.663-697缺失、c.587-615缺失、c.878TG突变是导致家系先证者及患者出现少汗型外胚层发育不全的病因。其中,EDA基因的c.663-697缺失、c.587-615缺失、c.878TG是未报道的新突变。
[Abstract]:Objective to study the location and type of EDA gene in 4 families with hypohidrotic ectodermal dysplasia and to provide genetic basis for clinical diagnosis. Methods the genomic DNA of the proband and his relatives were extracted, including 5 patients and 12 asymptomatic subjects. The peripheral blood samples of 100 normal adults with no family history of congenital dental defects were extracted as controls. Primers for 8 exons of EDA gene were designed and compared with normal sequences by polymerase chain reaction (PCR) and DNA sequencing. Results there were mutations at different sites of EDA gene in four families, which were c. 466CTA, c. 663-697 deletions, c. 587-615 deletions, c. 878TG. the carriers had heterozygosity mutations, but the normal controls did not. Conclusion the mutation of c. 466CTN c. 663-697 deletion of EDA gene and deletion of c. 587-615 c. 878TG is the cause of hypohidrotic ectodermal dysplasia in probands and patients. Among them, the deletion of EDA gene, c. 663-697, and the deletion of c. 587-615, c. 878TG, are new mutations that have not been reported.
【作者单位】： 中南大学湘雅医院口腔医学中心口腔修复科;潍坊市人民医院口腔科;首都医科大学附属北京口腔医院儿童口腔科;
【基金】：湖南省科学技术厅科技计划一般项目(2012FJ4088)~~
【分类号】：R596.1
[Abstract]:Objective to study the location and type of EDA gene in 4 families with hypohidrotic ectodermal dysplasia and to provide genetic basis for clinical diagnosis. Methods the genomic DNA of the proband and his relatives were extracted, including 5 patients and 12 asymptomatic subjects. The peripheral blood samples of 100 normal adults with no family history of congenital dental defects were extracted as controls. Primers for 8 exons of EDA gene were designed and compared with normal sequences by polymerase chain reaction (PCR) and DNA sequencing. Results there were mutations at different sites of EDA gene in four families, which were c. 466CTA, c. 663-697 deletions, c. 587-615 deletions, c. 878TG. the carriers had heterozygosity mutations, but the normal controls did not. Conclusion the mutation of c. 466CTN c. 663-697 deletion of EDA gene and deletion of c. 587-615 c. 878TG is the cause of hypohidrotic ectodermal dysplasia in probands and patients. Among them, the deletion of EDA gene, c. 663-697, and the deletion of c. 587-615, c. 878TG, are new mutations that have not been reported.
【作者单位】： 中南大学湘雅医院口腔医学中心口腔修复科;潍坊市人民医院口腔科;首都医科大学附属北京口腔医院儿童口腔科;
【基金】：湖南省科学技术厅科技计划一般项目(2012FJ4088)~~
【分类号】：R596.1
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