A novel mutation in DKC1 gene in a patient with dyskeratosis congenita
- VernacularTitle:先天性角化不良的一个新的基因突变
- Author:
Jian-Qin WANG
;
Han-Ping WANG
;
Yu-Cai WU
;
Jian-Jin XIE
;
Zhi-Ping XU
;
Jian-Rong XU
;
Guang-Zheng SUN
;
Rui-hua FANG
;
Ping MAO
;
Ren-shan ZENG
- Publication Type:Journal Article
- Keywords:
Dyskeratosis congenita;
Genes,DKC1;
Mutation
- From:
Chinese Journal of Dermatology
1994;0(06):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To detect the mutation in DKC1 gene in a patient with dyskeratosis congeni- ta.Methods Fifteen exons of DKC1 gene were amplified by polymerase chain reaction (PCR),and the products were screened for mutations by denaturing high performance liquid chromatography (DHPLC) technology,then DNA sequencing was performed for abnormal exons as shown by DHPLC.The gene muta- tions were verified within 100 unrelated male individuals without dyskeratosis congenita.Results An ab- normal DHPLC elution peak was found in exon 12 of DKC1 gene of the patient,but not in other family members or normal individuals.DNA sequencing showed a 1236G→T transition in DKC1 gene in the pa- tient,which resulted in a 412W→C substitution in DKC1.No mutation was found in other family members and normal individuals.Conclusion The 1236G→T transition in the patient is a novel mutation in DKC1 gene,which could be a causative factor of dyskeratosis congenita.
