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| 中国南方斑驳病一家系的一种新的KIT基因突变 | |
| 引用本文： | 邓伟平,黄跃深,陆春,赖维,朱国兴,林群娣,冯佩英. 中国南方斑驳病一家系的一种新的KIT基因突变[J]. 中华医学遗传学杂志, 2005, 22(6): 668-670 |
| 作者姓名： | 邓伟平 黄跃深 陆春 赖维 朱国兴 林群娣 冯佩英 |
| 作者单位： | 1. 510080,广州,广东省人民医院皮肤科 2. 中山大学附属第三医院皮肤科 3. 中山大学中山医学院遗传病实验室 |
| 基金项目： | 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K／T基因第2528位G→A（或C→T），使密码子AGT〉AAT，导致A850N。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。 |
| 关 键 词： | 斑驳病 K／T基因 基因突变 |
| 收稿时间： | 2005-09-12 |
| 修稿时间： | 2005-09-12 |
A novel KIT gene mutation from a family with piebaldism in the southern part of China |
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| DENG Wei-ping,HUANG Yue-shen,LU Chun,LIN Wei,ZHU Guo-xing,LIN Qun-di,FENG Pei-ying. A novel KIT gene mutation from a family with piebaldism in the southern part of China[J]. Chinese journal of medical genetics, 2005, 22(6): 668-670 | |
| Authors: | DENG Wei-ping HUANG Yue-shen LU Chun LIN Wei ZHU Guo-xing LIN Qun-di FENG Pei-ying |
| Affiliation: | Department of Dermatology, Guangdong Provincial People's Hospital, Guangzhou, Guangdong, P. R. China. |
| Abstract: | 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. |
| Keywords: | piebaldism K/T gene gene mutation |
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