中国南方斑驳病一家系的一种新的KIT基因突变  

A novel KIT gene mutation from a family with piebaldism in the southern part of China

作　　者：邓伟平[1] 黄跃深[1] 陆春[2] 赖维[2] 朱国兴[2] 林群娣[3] 冯佩英[2] 

机构地区：[1]广东省人民医院皮肤科,广州510080 [2]中山大学附属第三医院皮肤科 [3]中山医学院遗传病实验室

出　　处：《中华医学遗传学杂志》2005年第6期668-670,共3页Chinese Journal of Medical Genetics

基　　金：广东省自然科学基金(031655);中华医学会皮肤性病学分会研究基金~~

摘　　要：目的研究1个斑驳病家系的基因突变情况。方法经组织病理、电镜检查结合典型的临床特征确立斑驳病的诊断。采用聚合酶链反应及DNA直接测序的方法对此家系进行基因突变检测。结果家系中先证者存在KIT基因第2528位G→A(或C→T),使密码子AGT>AAT,导致S850N。100名健康对照组不存在此突变。结论S850N可能是引起该家系临床表型的原因。Objective To detect the gene mutation of a family with piebaldism. Methods Diagnosis of a patient with piebaldism was constructed by pathology, ultrastmctural examination and typical clinical-phenotype. Detection of gene mutation was carried out by PCR and DNA sequening. Results G 2528A substitution transition in the K/T gene was found in the pmband of the family with piebaldism. This mutation resulted in S850N substitution in protein product of K/T gene. No mutation was found in 100 normal individuals and other family members. Conclusion The mutation of S850N maybe one cause of clinical phenotype of the family with piebaldism.

关 键 词：斑驳病 K/T基因 基因突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]