Objective To investigate the frequency, type and distribution of PTCH mutations in odontogenic keratocysts ( OKC) and to analyze the molecular pathological relationship between sporadic OKC and OKC associated with nevoid basal cell carcinoma syndrome ( NBCCS). 目的检测牙源性角化囊肿(OKC)中PTCH基因突变的发生频率、类型及分布特点,分析散发OKC与伴发痣样基底细胞癌综合征(NBCCS)OKC之间的分子病理联系。
NBCCS secondary to an interstitial chromosome 9q deletion 继发于裂隙染色体9q缺失的痣样基底细胞癌综合征
Methods The genes of SHH signaling pathway were chosen as the possible pathogenic genes of this disease. 方法选择SHH信号系统的基因作为该NBCCS家系致病基因的候选基因,用微卫星遗传标记在候选基因染色体区域定位致病基因。
Objective To localize the pathogenic gene of nevoid basal cell carcinoma syndrome ( NBCCS) in a Chinese Han family. 目的定位一个中国汉族痣样基底细胞癌综合征(NBCCS)家系的致病基因。