遗传性全白甲一家系分析  

Hereditary leukonychia totalis:the analysis of a family line

作　　者：李恒进[1] 王建平[1] 温海鹰[1] 葛平[1] 冯峥[1] 樊建峰[1] 

机构地区：[1]中国人民解放军总医院皮肤科,北京100853

出　　处：《临床皮肤科杂志》2005年第12期810-812,共3页Journal of Clinical Dermatology

摘　　要：目的:分析一全白甲家系的发病情况及病变特征,明确其遗传方式,为进一步基因定位和克隆奠定基础。方法:对先证者及其家族的临床资料、实验室检查进行分析。结果:家系4代58名成员中共检出遗传性全白甲患者19例,其中男10例,女9例,有关的实验室检查及环境因素调查均为阴性。结论:该遗传性全白甲家系符合常染色体显性遗传规律,为下一步全基因组扫描基因定位提供了依据。Objective： To investigate the clinical features and the mode of inheritance in a Chinese family with hereditary leukonyehia totalis （FILT）. Methods： The clinic data and the laboratory results were analyzed in the proband and the other people in the family. Results： There were 19 persons （10 males, 9 females） diagnosed as HLT in the family which had 58 persons in 4 generations. All the results of the related laboratory tests and the environment factors were negative. Conclusion： This family of hereditary leukonychia totalis which is an autosomal dominant disorder can provide the primary basis for the further study of genome-wide scan.

关 键 词：全白甲 遗传性 家系调查 

分 类 号：R758.72[医药卫生—皮肤病学与性病学]