郑州大学学报（医学版）Issue(5)：697-700,4.DOI:10.13705/j.issn.1671-6825.2014.05.029
两个汉族少汗型外胚层发育不良家系患者 EDA基因突变检测
Mutation detection of EDA gene in two Han pedigrees with hypohidrotic ectodermal dysplasia
摘要
Abstract
Aim:To detect mutations in ectodysplasin A ( EDA) gene in two pedigrees with hypohidrotic ectodermal dysplasia(HED).Methods:Seven from 2 pedigrees(16 family members in total) were chosen,among which,4 were from pedigree A ,and 3 were from pedigree B .The peripheral blood samples were collected and DNA was extracted .The fragments of exons 1,3,5,8,and 9 were amplified using PCR,the PCR products were sequenced and the results were analyzed by BLAST.Results:There were mutations of G740A,G904A and A1165G in exons 3,5,and 8,and 5 kinds of frameshift muta-tions in exons 1,8,and 9.33delC and G904A were found in pedigree A and pedigree B ,and both mutations could be passed down between generations .Conclusion:33delC and G904A mutations may be associated with HED .33delC and G904A mu-tations may have some clinical significance in predicting the risk of recurrence of HED .关键词
少汗型外胚层发育不良/EDA基因/突变Key words
hypohidrotic ectodermal dysplasia/EDA gene/mutation分类
医药卫生引用本文复制引用
赵玉苗,孙文聪,张景亮,王丽雯,刘华,程晓丽..两个汉族少汗型外胚层发育不良家系患者 EDA基因突变检测[J].郑州大学学报（医学版）,2014,(5):697-700,4.基金项目
郑州大学大学生创新实验项目资助课题2009CXSY002 （）
