摘要
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。
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 ehain reaction （PCR） was used to amplify exons 1 and 6 of KRT9 gene. PCR products were sequenced bidirectionally 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.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2012年第3期280-283,共4页
Chinese Journal of Medical Genetics
基金
基金项目：973项目（2010CB529501）
长江学者和创新团队发展计划（PCSIRT0935）
