遗传性全白甲一家系的CRYGA、CRYGB、CRYGC和CRYGD基因突变分析  

CRYGA, CRYGB, CRYGC and CRYGD gene mutation in a pedigree of hereditary leukonychia totalis

作　　者：张昕[1] 冯峥[1] 张文 李恒进[1] 解方[1] 

机构地区：[1]解放军总医院皮肤科,北京100853 [2]国家人类基金组北方研究中心,北京100176

出　　处：《中国麻风皮肤病杂志》2008年第12期946-948,共3页China Journal of Leprosy and Skin Diseases

基　　金：国家自然科学基金（30470957）

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γ晶状体球蛋白基因（CRYGA、CRYGB、CRYGC和CRYGD）的突变与本病的相关性。方法：对以上4个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，根据测序结果分析此四个基因突变。结果：在CRYGA、CRYGB、CRYGC和CRYGD基因外显子区域及邻近内含子区域内检测到5个多态性位点，未检测到致病的基因突变。结论：CRYGA、CRYGB、CRYGC和CRYGD基因编码区域的变异不是引起此全白甲家系的致病基因突变。Objective： To investigate γ - crystallin genes （CRYGA, CRYGB, CRYGC and CRYGD） mutation in a pedigree with autosomal dominant hereditary leukonychia totalis. Methods： All exons of the four genes were amplified using polymerase chain reaction and then subjected to automatic DNA sequencing. Results： Five mutations were found but the pathogenic mutation was not found in all exons and their flanking intronic sequences of the four genes. Conclusion： The mutation of exons and their flanking intronie sequences of γ - crystallin genes （ CRYGA, CRYGB, CRYGC and CRYGD） were not the cause of the family with autosomal dominant hereditary leukonychia totalis.

关 键 词：遗传性全白甲 突变 单核苷酸多态性 γ晶状体球蛋白基因 

分 类 号：R733.72[医药卫生—肿瘤] R657.42[医药卫生—临床医学]