RESUMO
OBJECTIVE@#To identify the gene causing diffuse palmoplantar keratoderma in a Chinese pedigree.@*METHODS@#Four normal individuals and 3 patients in a diffuse palmoplantar keratoderma family and 10 unrelated control samples were recruited. The hotspot of the mutations of keratin 9 gene was analyzed by polymerase chain reaction and direct sequencing.@*RESULTS@#We found a G485A transition in ke ratin 9 gene, resulting in the substitution of glutamine for arginine at codon 162 in this diffuse palmoplantar keratoderma family. The mutation was not found in the 10 unrelated control samples and 4 normal individuals.@*CONCLUSION@#The mutation G485A found in keratin 9 gene is the disease-causing mutation in the diffuse palmoplantar keratoderma family.
Assuntos
Feminino , Humanos , Masculino , Sequência de Bases , Análise Mutacional de DNA , Heterozigoto , Queratinas , Genética , Ceratodermia Palmar e Plantar Difusa , Genética , Dados de Sequência Molecular , Mutação , LinhagemRESUMO
<p><b>OBJECTIVE</b>To identify mutations of keratin 9 (KRT9) gene in a big Chinese family with epidermolytic palmoplantar keratoderma(EPPK) combined with knuckle-pad-like lesions and nail lesions.</p><p><b>METHODS</b>Genomic DNA from peripheral blood of all available members in this family and 50 unrelated healthy individuals was used for amplification of the whole coding sequence and the intron-exon boundaries of KRT9 gene by PCR; The mutation was detected by direct sequence analysis and identified by restriction endonuclease Dde I.</p><p><b>RESULTS</b>A mutation of AAT>AGT at codon 160 (N160S) was found in all patients but not in unaffected family members and 50 controls.</p><p><b>CONCLUSION</b>The mutation of AAT>AGT at codon 160 (N160S) is the disease-causing mutation in this Chinese pedigree with EPPK.</p>