[一个弥漫性掌跖角化病家族中角蛋白9基因突变热点]
[Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].
作者信息
Sun Xia, Yin Xin-Zhen, Wu Ling-Qian, Shi Xiao-Liu, Hu Zheng-Mao, Liu Xiao-Ping, Pan Qian, Dai He-Ping, Xia Kun, Xia Jia-Hui
机构信息
National Laboratory of Medical Genetics of China, Central South University, Changsha, China.
出版信息
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2005 Oct;30(5):521-4.
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 G485A found in keratin 9 gene is the disease-causing mutation in the diffuse palmoplantar keratoderma family.
目的
鉴定一个中国家系中导致弥漫性掌跖角化病的基因。
方法
招募了一个弥漫性掌跖角化病家族中的4名正常个体、3名患者以及10个无关对照样本。采用聚合酶链反应和直接测序法分析角蛋白9基因的突变热点。
结果
我们在该弥漫性掌跖角化病家族的角蛋白9基因中发现了一个G485A转换，导致第162密码子处的精氨酸被谷氨酰胺替代。在10个无关对照样本和4名正常个体中未发现该突变。
结论
在角蛋白9基因中发现的G485A突变是该弥漫性掌跖角化病家族中的致病突变。
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