Abstract: Objective To detect the mutation in DKC1 gene in a patient with dyskeratosis congenita.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 mutations were verified within 100 unrelated male individuals without dyskeratosis congenita.Results An abnormal 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 patient,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.

Key words: Dyskeratosis congenita, Genes,DKC1, Mutation