遗传性全白甲一家系角蛋白17基因突变的研究

目的:研究角蛋白17基因突变与遗传性全白甲临床表型的关系。方法:用PCR扩增来自同一家系的16例全白甲患者、5名正常人外周血基因组DNA角蛋白17基因8个外显子编码序列及非编码序列,PCR产物进行序列分析。结果:此基因在本家系16例患者中未发现突变位点。结论:在本家系可能有新的致病基因位于其它染色体上。

Keratin 17 gene mutation in a pedigree with hereditary leukonychia totalis

Objective:To detect mutations of the keratin 17 gene in a Chinese hereditary leukonychia totalis pedigree and to study the relationship between the genetic mutations and phenotype of Hereditary leukonychia totalis with the view to definite the gene and the further gene map.Methods:Genomic DNA from sixteen patients and five normal persons in the same pedigree(suffering) Hereditary leukonychia totalis were extracted,and subsequently eight exons and intron of KRT17 gene were screened for mutations by PCR and DNA sequencing techniques.Results:Mutation in the KRT17gene was not detected in all 16 Chinese(patients).Conclusion:Mutations in involvement of other genes may cause the disease in this Chinese pedigree.