Keratin 17 gene mutation in a pedigree with hereditary leukonychia totalis

Objective: To detect mutations of the keratin 17 gene in a Chinese hereditary leukonychia totalis pedigree and to study the relationship between the genetic mutations and phenotype of Hereditary leukonychia totalis with the view to definite the gene and the further gene map. Methods: Genomic DNA from sixteen patients and five normal persons in the same pedigree（suffering） Hereditary leukonychia totalis were extracted,and subsequently eight exons and intron of KRT17 gene were screened for mutations by PCR and DNA sequencing techniques. Results: Mutation in the KRT17gene was not detected in all 16 Chinese（patients）. Conclusion: Mutations in involvement of other genes may cause the disease in this Chinese pedigree.