一个弥漫性表皮松解性掌跖角化病家系角蛋白9基因R162W突变  

Mutation analysis of the keratin 9 gene in a pedigree with diffuse epidermolytic plamoplantar keratoderma

作　　者：李明 张国龙[2] 翟建新[1] 魏聆[1] 朱小红[1] 戴迅毅[1] 杨莉佳[1] 

机构地区：[1]南京医科大学附属无锡第二医院、无锡市第二人民医院皮肤科,江苏无锡214002 [2]无锡市人民医院皮肤科

出　　处：《中华医学遗传学杂志》2008年第4期387-389,共3页Chinese Journal of Medical Genetics

摘　　要：目的研究1个弥漫性表皮松解性掌跖角化病（epidermolytic plamoplantar keratoderma，EPPK）家系中的基冈突变情况。方法收集1个弥漫性表皮松解性掌跖角化病家系的外周血标本，采取聚合酶链反应结合DNA直接测序的方法，检测了该家系中4例患者及3名表型正常者和100名无亲缘关系健康个体的KRT9基因突变情况。结果该家系中患者存在KRT9基因上第484位C突变成T，使得KRT9基因的第1外显子162位密码子由CGG突变成TGG，导致正常精氨酸被色氨酸所取代，而该家系的正常人对照及无关健康个体不存在此突变：结论EPPK家系中患者KRT9基因存在错义突变（484C→T），这可能是导致EPPK发病的分子机制之一。Objective To analyze the mutation of the keratin 9 gene （ KR7t） ） in a pedigree with epidermolytic plamoplantar keratoderma （EPPK）. Methods Blood samples were obtained from 4 affected and 3 normal individuals in this family. Mutation screening was carried out by polymerase chain reaction （PCR） and direct DNA sequencing. Results A heterozygous nucleotide C to T transition at position 484 in exon 1 of the KRT9 gene was detected in the 3 affected in this family, but was not found in normal individuals in the family and 100 unrelated individuals. Conclusion A missense mutation （484 C to T） in the KR7P gelle has been detected in this EPPK family, which is probably one of the molecular bases of the pathogenesis of the disease.

关 键 词：表皮松解性掌跖角化病 DNA突变分析 角蛋白9基因 

分 类 号：R686[医药卫生—骨科学]