A Mutation in the Connexin30Gene in a Pedigree with Hidrotic Ectodermal Dysplasia
- VernacularTitle:有汗性外胚层发育不良一家系的连接蛋白30基因突变检测
- Author:
Jianjun CHEN
;
Sen YANG
;
Yong CUI
;
Xiaoyan XIONG
;
Pingping HE
;
Puling DONG
;
Shijie XU
;
Yuebin LI
;
Wei HUANG
;
Xuejun ZHANG
- Publication Type:Journal Article
- Keywords:
Ectodermal dysplasia;
DNA mutation analysis;
Sequence analysis,DNA;
GJ?6gene
- From:
Chinese Journal of Dermatology
2003;0(11):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyses the mutation of connexin30gene in a pedigree with hidrotic ec-todermal dysplasia(HED).Methods Blood samples were obtained from18affected and16normal individ-uals in this family.Mutation scanning was carried out by PCR and direct sequencing.Results A transition,at position on connexin30gene31(G→A),leading to a missense mutation(G11R),was detected in18patients,but was not found in16normal individuals in this HED family and in188unrelated,population-matched control individuals,which indicated that it did not represent common polymorphism.Conclusion A missense mutation(31G→A)in the connexin30gene has been determined in the pedigree with HED,which is probably one of the molecular bases of the pathogenesis of the disease.
