弥漫性掌跖角化病家系角蛋白9基因突变热点区的检测

Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family

目的:确定一个弥漫性掌跖角化病家系的致病基因。方法:收集一个弥漫性掌跖角化病家系7人(3名患者,4名正常人)和家系外10位正常人的血样,抽提基因组DNA,然后对角蛋白9基因的突变热点区进行PCR扩增,测序分析PCR产物。结果:该家系中3例患者的角蛋白9基因编码区第485位碱基发生G→A的突变,导致第162位的精氨酸被谷氨酰胺取代(R162Q),而4位家系内正常人和家系外10位正常人未发现此突变。结论:角蛋白9基因的G485A突变是导致该家系发生弥漫性掌跖角化病的原因。

Objective To identify the gene causing diffuse palmoplantar keratoderma in a Chinese pedigree. Methods Four normal individuals and 3 patients in a diffuse palmoplantar keratoderma family and 10 unrelated control samples were recruited. The hotspot of the mutations of keratin 9 gene was analyzed by polymerase chain reaction and direct sequencing. Results We found a G485A transition in ke ratin 9 gene, resulting in the substitution of glutamine for arginine at codon 162 in this diffuse palmoplantar keratoderma family. The mutation was not found in the 10 unrelated control samples and 4 normal individuals. Conclusion The mutation C,485A found in keratin 9 gene is the disease-causing mutation in the diffuse palmoplantar keratoderma family.