【摘要】 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。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。结果连锁分析结果发现,PTCH2基因所在染色体区域微卫星遗传标记D1s2797LODZMAX为1·31(平均遗传距离73·81)、D1s2802LODZMAX为1·26(平均遗传距离73·81),支持连锁。构建单体型发现家系内所有病变表型的个体D1s2797和D1s2802的基因型一致,无交换重组现象。而SHH,PTCH,SMO基因染色体区域微卫星遗传标记连锁分析结果不支持连锁。结论这个中国汉族NBCCS家系的致病基因定位在PTCH2基因染色体区域1p32·3,遗传距离为1·85cM。更多还原

【Abstract】 Objective To localize the pathogenic gene of nevoid basal cell carcinoma syndrome (NBCCS) in a Chinese Han family. Methods The genes of SHH signaling pathway were chosen as the possible pathogenic genes of this disease. Microsatellites around these genes were chosen as the hereditary markers to perform linkage analysis and haplotype analysis in order to localize the pathogenic gene.Results D1s2797 LODZMAX was 1.31, D1s2802 LODZMAX was 1.26 in this family, which supported the linkage. The patients of the family had the same haplotype in D1s2797 and D1s2802, which also certified the findings.Conclusion The pathogenic gene of NBCCS in this Chinese Han family was localized in chromosome 1p32.3 which included PTCH2. The hereditary distance was 1.85cM.更多还原