Mutations in ED1 Gene of Two Pedigrees with X-linked Hypohidrotic Ectodermal Dysplasia
- VernacularTitle:X性连锁少汗性外胚层发育不良家系ED1基因突变检测
- Author:
Jianjun CHEN
;
Sen YANG
;
Yingxue SONG
;
Xiaoyan XIONG
;
Anping ZHANG
;
Pingping HE
;
Min GAO
;
Yuebin LI
;
Da LIN
;
Wei HUANG
;
Xuejun ZHANG
- Publication Type:Journal Article
- Keywords:
Ectodermal dysplasia;
DNA mutation analysis;
Gene deletion;
ED1 gene
- From:
Chinese Journal of Dermatology
2003;0(10):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To detect ED1 gene mutations in the families with X-linked hypohidrotic ec-todermal dysplasia (XLHED). Methods Blood samples were obtained from 2 pedigrees. All 8 exons and flanking intronic boundaries of ED1 gene were amplified with polymerase chain reaction technique and then directly sequenced. Results Two mutations were found in ED1 gene. One was splicing mutation (IVS8+5 del G), the other was missense mutation (A959G). None of the mutations was found in normal individuals of two XLHED families and in 188 unrelated, population-matched control individuals. Conclusion Out of the ED1 gene mutations identified in 2 Chinese XLHED families, IVS8+5del G is a novel mutation.
