论文部分内容阅读
We identified seven novel germline mutations of the PTCH gene in eight unrelat ed Japanese patients with nevoid basal cell carcinoma syndrome (NBCCS). In order to ensure genetic diagnosis, all 23 coding exons of the PTCH gene were amplifie d from genomic DNA by polymerase chain reaction (PCR) and sequenced. Mutations w ere found in all eight patients with NBCCS. The mutations detected in this study include one insertion/deletion mutation, one 1-bp insertion, two 1-bp deletio ns, one nonsense mutation and two missense mutations. None of the mutations have been previously reported. Five mutations caused premature stop codons that are predicted to result in a truncated protein. In the two missense mutations, the s trong basic residue arginine was substituted by serine or glycine in highly cons erved components of the putative transmembrane domain of PTCH, and these mutatio ns may therefore affect the conformation and function of the PTCH protein. No ph enotype-genotyperelationshipswerefoundintheJapanese NBCCS patients, consistent with results of previous studies on NBCCS in African-American and Caucasian pat ients.
We identified seven novel germline mutations of the PTCH gene in eight unrelat-ed Japanese patients with nevoid basal cell carcinoma syndrome (NBCCS). In order to ensure genetic diagnosis, all 23 coding exons of the PTCH gene were amplifie d from genomic DNA by polymerase chain Mutations w ere found in all eight patients with NBCCS. The mutations detected in this study include one insertion / deletion mutation, one 1-bp insertion, two 1-bp deletio ns, one nonsense mutation and two missense All of the mutations have been previously reported. Five mutations caused premature stop codons that are predicted to result in a truncated protein. In the two missense mutations, the trong basic residue arginine was substituted by serine or glycine in highly cons erved components of the putative transmembrane domain of PTCH, and these mutatio ns may wish affect the conformation and function of the PTCH protein. No ph enotype-genotyperelationshipswerefou ndintheJapanese NBCCS patients, consistent with results of previous studies on NBCCS in African-American and Caucasian patients.