CAJ | 학술논문

目的确定一个中国汉族表皮松解性掌跖角化症(epidermolytic palmoplantar keratoderma,EPPK)家系角蛋白9基因(keration 9,KRT9)的突变情况,并分析基因型与表型的对应关系.方法收集该家系12例患者、13名健康者和100名无亲缘关系的正常人的外周血,提取基因组DNA.采用PCR扩增KRT9基因的第1和第6外显子,对PCR产物进行双向测序以检测基因突变.结果在所有患者中均检测到KRT9基因第1外显子中的杂合型488G→A突变,导致第163位的精氨酸被谷氨酰胺取代(R163Q).在家系中13名正常人和家系外100名正常人未检测到同样的突变.结论 KRT9基因的错义突变488G→A是该家系发生表皮松解性掌跖角化症的主要原因.
목적 학정일개중국한족표피송해성장척각화증(epidermolytic palmoplantar keratoderma,EPPK)가계각단백9기인(keration 9,KRT9)적돌변정황,병분석기인형여표형적대응관계.방법 수집해가계12례환자、13명건강자화100명무친연관계적정상인적외주혈,제취기인조DNA.채용PCR확증KRT9기인적제1화제6외현자,대PCR산물진행쌍향측서이검측기인돌변.결과 재소유환자중균검측도KRT9기인제1외현자중적잡합형488G→A돌변,도치제163위적정안산피곡안선알취대(R163Q).재가계중13명정상인화가계외100명정상인미검측도동양적돌변.결론 KRT9기인적착의돌변488G→A시해가계발생표피송해성장척각화증적주요원인.
[Objective]To analyze potential mutation of keration 9 gene (KRT9) in a Chinese family affected with epidermolytic palmoplantar keratoderma (EPPK) and to correlate genotype with the phenotype.[Methods] Genomic DNA was extracted from peripheral blood samples of 12 patients and 13 healthy individuals from the family and 100 unrelated individuals.Polymerase chain reaction (PCR) was used to amplify exons 1 and 6 of KRT9 gene.PCR products were sequenced bidireetionally in order to identify potential mutations.[Results] A heterozygous transversional mutation,488G→A,was identified in exon 1 of KRT9 gene in all patients,which has resulted in substitution of a glutamine residue for arginine acid at position 163 (R163Q) of the KRT9 protein.The same mutation was not found in the 13 healthy members from the family and 100 unrelated individuals.[Conclusion] The 488G→A mutation of KRT9 gene is probably the cause of EPPK in this Chinese family.