Mutation of DKC1 Gene in a Family of Dyskeratosis Congenita
- VernacularTitle:一个先天性角化不良家系中DKC1基因突变的检测
- Author:
Yingguo DING
;
Wei JIANG
;
Yong YANG
;
Dingfang BU
;
Xixue CHEN
;
Ping TU
;
Xuejun ZHU
- Publication Type:Journal Article
- Keywords:
Dyskeratosis congenita;
Point mutation
- From:
Chinese Journal of Dermatology
1994;0(06):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To identify the mutation of DKC1 gene and its inheritance in a pedigree with dyskeratosis congenita (DKC). Methods The mutation was detected by polymerase chain reaction(PCR)and DNA sequencing, and restriction endonuclease digestion was performed to confirm the mutation. Results A transition mutation of C to T (1058C-T) in DKC1 gene was found in the proband and his brother. This mutation results in an amino acid change from alanine to valine (A353V) in dyskerin protein. The proband′s mother and sister were carriers of this mutation gene with no phenotype of DKC. Conclusion This pedigree is an X-linked form of DKC with 1058C-T mutation in DKC1 gene.
