Ⅱ型先天性厚甲症一家系KRT基因突变检测

摘要

Objective: To identify the mutations of KRT6b and KRT17 genes in a pedigree with pachyonychia congenita. Methods:Genomic DNA was extracted from peripheral blood of propositus, the par-ents and 100 healthy controls. The mother was a patient and his father was normal. All the exons of KRT6b and KRT17 genes were amplified by PCR, and the products were purified and directly sequenced to detect mutations. Results:A missense mutation of KRT17 gene (c.275A>G) was identified in propositus and the mother, which was not found in the father and controls. No mutation of KRT6b was found in this family mem-bers and controls. Conclusion:A heterozygous missense mutation in KRT17 (c.275A>G, p.Asn92Ser) is the cause of the disease in the family.%目的:检测先天性厚甲症一家系中KRT6b和KRT17基因突变位点.方法:提取先证者、其父母(母亲为患者,父亲正常人)及100名正常对照者外周静脉血DNA,PCR技术扩增KRT6b和KRT17基因编码序列,Sanger测序法对PCR扩增产物进行测序.结果:先症者及其母亲在KRT17基因1号外显子上存在错义突变(c.275A>G),KRT6b基因不存在任何突变.先证者父亲及100名正常对照者中未检测到任何突变.结论:此家系患者是由于KRT17基因突变(c.275A>G,p.Asn92Ser)所致.