Study on the Gene Mutation in a Pedigree with Dowling-Meara Type Epidermolysis Bullosa Simplex by PCR-Heteroduplex Analysis
- VernacularTitle:Dowling-Meara亚型单纯型大疱性表皮松解症一家系的基因突变检测
- Author:
Yong YANG
;
Guanqun LI
;
Xuejun ZHU
- Publication Type:Journal Article
- Keywords:
Epidermolysis bullosa simplex Keratin14 Gene Mutation
- From:
Chinese Journal of Dermatology
1995;0(01):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the gene mutation in a pedigree with Dowling-Meara type epidermolysis bullosa simplex (DM-EBS). Methods Using the immuno-histochemistory, electron microscopy, PCR-HA and DNA sequencing. Results The cytolysis was observed throughout the lower basal layer, tonofilaments were decreased; using PCR-HA, the K14 gene mutation was detected. By DNA sequencing, we found gene mutation in this pedigree: K14 1A domain: N123R. Conclusion There is K14 1A domain gene mutation in this DM-EBS pedigree.
