二例长岛型掌跖角化症及其基因分析

Analysis of SERPINB7 Gene Mutation in Two Cases with Nagashima-type Palmoplantar Keratosis

目的对2例长岛型掌跖角化症(Nagashima-typePalmoplantarKeratosis,NPPK)患者的丝氨酸蛋白酶抑制剂B7(SERPINB7)基因全部外显子及外显子-内含子边界进行测序分析。方法采用聚合酶链式反应SERPINB7基因进行直接测序。结果1例患者检测到SERPINB7基因c.796C>T纯合突变,1例患者为c.796C>T与c.455G>T的复合杂合突变。结论SERPINB基因c.796C>T及c.455G>T突变可能为NPPK患者的致病突变位点。

Objective To investigate serine protease inhibitors B7(SERPINB7)gene mutation in two cases with Nagashima-type palmoplantar keratosis(NPPK).Methods All coding exons and exon-intron boundaries of SERPINB7 gene were amplified by PCR,and direct sequencing was performed.Results A homozygous mutation c.796C>T in SERPINB7 gene in one patient,and another patient habored a compound heterozygous c.796C>T combined with c.455G>T.Conclusion c.796C>T combined with c.455G >T mutations may be the pathogenetic mutation NPPK.