CAJ | 학술논문

目的对痣样基底细胞癌综合征一家系进行PTCH1基因突变分析.方法提取先证者(Ⅱ5)及Ⅱ1、Ⅱ3、Ⅲ4的DNA,以50例健康人为对照.应用聚合酶链反应(PCR)、DNA直接测序明确突变位点,根据突变位点设计特异性引物,用PCR来检测突变位点从而进一步确定该家系的致病原因.结果先证者PTCH1基因的1条等位基因第14号外显子上2137位胞嘧啶C被胸腺嘧啶T替代(c.2137C＞T),即CAG→TAG,导致终止密码产生(Q714X),Ⅲ4也检测到相同突变.健康对照者中未检出该突变.结论PTCH1基因的无义突变(c.2137C＞ T)可能是引起该患者临床症状的特异性突变.
목적 대지양기저세포암종합정일가계진행PTCH1기인돌변분석.방법 제취선증자(Ⅱ5)급Ⅱ1、Ⅱ3、Ⅲ4적DNA,이50례건강인위대조.응용취합매련반응(PCR)、DNA직접측서명학돌변위점,근거돌변위점설계특이성인물,용PCR래검측돌변위점종이진일보학정해가계적치병원인.결과선증자PTCH1기인적1조등위기인제14호외현자상2137위포밀정C피흉선밀정T체대(c.2137C＞T),즉CAG→TAG,도치종지밀마산생(Q714X),Ⅲ4야검측도상동돌변.건강대조자중미검출해돌변.결론PTCH1기인적무의돌변(c.2137C＞ T)가능시인기해환자림상증상적특이성돌변.
Objective To analyze mutations in the PTCH1 gene in a pedigree with nevoid basal cell carcinoma syndrome (NBCCS).Methods Blood samples were collected from a 58-year-old male proband with NBCCS (Ⅱ 5),his brothers (Ⅱ 1 and Ⅱ 3) and son (Ⅲ4),and 50 unrelated healthy human controls.DNA was extracted from these blood samples.PCR and direct DNA sequencing were performed to determine mutation sites in the PTCH1 gene.According to the mutation sites,allele-specific oligonucleotide primers were designed and used to confirm the pathogenic mutations in this pedigree through PCR.Results A nonsense mutation (c.2137C),which leads to the substitution of CAG by TAG with the generation of a premature termination codon (Q714X),was identified in exon 14 in one allele of the PTCH1 gene in the proband and his son,but in none of the healthy human controls.Conclusion The nonsense mutation (c.2137C ＞ T) in the PTCH1 gene may be a specific mutation causing the clinical symptoms in the patient with NBCCS.