重型斑驳病一家系KIT基因新突变  

A novel missense mutation of KIT gene in a family with severe piebaldism

作　　者：陈荃[1] 林志森[1] 李名扬[1] 张洁[1] 汪慧君[1] 王晓雯[1] 杨勇[1] 

机构地区：[1]北京大学第一医院皮肤科,北京100034

出　　处：《中国麻风皮肤病杂志》2012年第4期231-233,共3页China Journal of Leprosy and Skin Diseases

摘　　要：目的:确定一斑驳病家系KIT基因的突变位点。方法:提取先证者及其父母共3人外周血白细胞基因组DNA,对KIT基因的全部21个外显子和侧翼序列进行PCR扩增和测序。以150名正常人为对照。结果:先证者及其患病母亲均发现位于KIT基因第17号外显子c.A2419G(p.K807E)错义突变,父亲和其他150名对照者中未发现此突变。结论:该家系患者的发病是由KIT基因c.A2419G(p.K807E)突变所致,在国内、外属首次报道。Objective： To identify KIT gene mutation in a family with severe type of piebaldism. Methods： Genomic DNA of peripheral leukocytes in a family with severe type of piebaldism was extracted. PCR amplification and direct sequencing of all exons and flanking fragments of KIT gene were carried out in this family and 150 healthy controls. Results： A heterozygous missense mutation （c.A2419G） in KIT gene was detected in the proband and his affected mother, which was not found in either the father or healthy controls. Conclusion： The clinical manifestation in the family is caused by the missense mutation of KIT gene c.A2419G, which is the first report in this disease.

关 键 词：斑驳病 基因 KIT 突变 黑素细胞 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]