Detection of Gene Mutations in a Family of Congenital Atrichia with Papular Lesions
- VernacularTitle:一例伴丘疹性损害的先天性无毛症患者的基因突变研究
- Author:
Li ZHANG
;
Zhenying WANG
;
Xinjing WEI
;
Chenfan LIU
- Publication Type:Journal Article
- Keywords:
Congenital atrichia;
Mutation
- From:
Chinese Journal of Dermatology
2003;0(11):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To detect gene mutations in a family of congenital atrichia with papular lesions (APL). Methods Polymerase chain reaction and DNA sequencing were used to search for mutations in the HR gene (a causative gene of APL), the CJB6 gene, and the CDSN gene. Results No mutation was found in these three genes except for single nucleotide polymorphisms (SNPs) in the HR and CDSN genes. Conclusion No mutation is identified in the HR, CJB6 or CDSN gene in this family affected by congenital APL.
