摘要
目的 :研究少汗性外胚叶发育不全引起先天缺牙的ED1基因突变。方法 :对 3个少汗性外胚叶发育不全核心家系进行外周血基因组DNA的提取。利用聚合酶链反应、DNA直接测序进行突变检测 ,进一步采用限制性内切酶酶切验证突变。结果 :3个家系中的每位患者均存在ED1基因外显子不同位点的单碱基错义突变 ,分别为C4 12G、A12 0 1G和C1375T ,其中前两个突变位点是国内外首次报道的。结论 :ED1基因的单碱基突变是引起此3个核心家系少汗性外胚叶发育不全的致病突变。
Objective: To detect ED1 gene mutation in three hypohidrotic ectodermal dysplasia (HED) nuclear families. Methods: Peripheral blood samples were obtained from three different families of hypohidrotic ectodermal dysplasia. Genomic DNA was extracted. Polymerase chain reaction, direct sequencing and restriction enzyme reaction were performed to identify the mutations. Results: Different missense mutation in ED1 gene were found in each family: C412G, A1201G and C1375T. Two of the mutations had not been previously reported. Conclusion: Mutations in the ED1 gene are responsible for the phenotypes of HED of the patients in the family.
出处
《北京大学学报（医学版）》
CAS
CSCD
北大核心
2003年第4期419-422,共4页
Journal of Peking University:Health Sciences
基金
教育部教育振兴行动计划特殊专项 ("九八五"工程 ) ( 2 0 0 1 10 )资助~~
