伴指间关节畸形的掌跖角化病家系基因突变检测

Mutation in a pedigree of palmoplanter keratoderma with deformed articulationes interphalangeae

目的:检测一掌跖角化病家系致病基因的突变。方法:收集一具有4例患者的掌跖角化病家系和50位正常人的血液样本,抽提基因组DNA,PCR扩增致病基因(角蛋白9基因,KRT9)的外显子区,测序分析PCR产物。结果:该家系中4例患者的KRT9基因第1外显子第160位密码子发生AAT→AGT的突变,导致第160位的天门冬氨酸被丝氨酸取代(N160S),正常人中未发现此突变。结论:KRT9基因的AAT→AGT突变(N160S)是导致该家系发生弥漫性掌跖角化病的原因。

Objective： To detect the mutation underlying a pedigree presented as diffuse epidermolytic palmoplantar keratoderma （EPPK） with deformed articulationes interphalangeae. Methods： Blood samples were collected from the members of a pedigree of EPPK and 50 normal individuals out of the family. After DNA was extracted from blood samples, exons in keratin - 9 gene were amplified by PCR and products were read by direct sequence analysis. Results： A mutation of AAT→AGT at codon 160 （N160S） was found in all the four affected individuals in the pedigree but not in the normal controls. Conclusion： The mutation of AAT→AGT at codon 160 （N160S） is the causing mutation in the pedigree of EPPK with deformed articulationes interphalangeae.