摘要
目的:分析常染色体显性遗传全白甲病家系的候选基因KLF7和CPO的突变。方法:对KLF7和CPO基因的全部外显子区域及邻近内含子区域进行PCR扩增,其产物进行直接测序,根据测序结果分析KLF7和CPO的基因突变。结果:在KLF7和CPO基因外显子区域及邻近内含子区域内检测到5个变异位点,未检测到致病的基因突变。结论:KLF7和CPO基因编码区域的变异不是此家系全白甲的致病基因突变。
Objectlve：To study KLF7 and CPO gene mutation in a pedigree with autosomal dominant hereditary leukonychia totalis. Methods：All exons of the two genes were amplified using polymerase chain reaction and then were subjected to automatic DNA sequencing to find the mutation. Results：Five mutations were found but the pathopoiesia mutation was not found in all exons and their flanking intronic sequences of the two genes. Conclusion： The diseases of the family with autosomal dominant hereditary leukonychia totalis are not caused by the mutation of exons and their flanking intronic sequences of KLF7 and CPO gene.
出处
《军医进修学院学报》
CAS
北大核心
2007年第3期213-214,共2页
Academic Journal of Pla Postgraduate Medical School
基金
国家自然科学基金(30470957)
关键词
遗传性全白甲
指(趾)甲
突变
hereditary leukonychia totalis
nails
mutation
