中华皮肤科杂志 ›› 2010, Vol. 43 ›› Issue (6): 399-401.

• 论著 • 上一篇    下一篇

kit基因c.2472 + 1G > A突变在一个中国家系导致斑驳病

全意1,廖希2,梁德生2,邬玲仟1   

  1. 1. 中南大学医学遗传学国家重点实验室
    2.
  • 收稿日期:2009-11-17 修回日期:2009-12-07 出版日期:2010-06-15 发布日期:2010-06-08
  • 通讯作者: 全意 E-mail:quanyi@sklmg.edu.cn
  • 基金资助:

    十一五国家科技支撑计划课题

A novel mutation of c.2472 + 1G > A in kit gene causes piebaldism in a Chinese family

  • Received:2009-11-17 Revised:2009-12-07 Online:2010-06-15 Published:2010-06-08

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摘要：

目的 对一斑驳病家系行分子遗传学分析，明确该家系的致病突变。方法 运用PCR、逆转录PCR和DNA测序对家系成员kit基因进行基因检测。结果 先证者的kit基因存在c.2472 + 1G > A的杂合突变，该突变使第17号外显子3′端剪接位点丢失，导致kit基因所编码的mRNA第17号外显子缺失，家系中其他患者均存在相同突变，家系中正常个体中没有此突变。结论 kit基因的c.2472 + 1G > A杂合突变是导致家系成员发生斑驳病的致病突变。

关键词: 斑驳病, KIT, 剪接位点突变

Abstract:

Objective To make a molecular genetic analysis in a Chinese family with piebaldism, in order to find the causative mutation of this disease. Methods DNA and RNA were extracted from blood samples of the proband and other 13 members in this family. Ploymerase chain reaction（PCR）, reverse transcription PCR and DNA sequencing were performed to detect the mutation of kit gene. Results A novel heterozygous mutation c.2472 + 1G > A in kit gene, which leads to the loss of 3′ splicing site in exon 17 followed by the absence of exon 17, was found in all affected members, but not in an unaffected member in the family. Conclusion The novel mutation c.2472 + 1G > A may be associated with piebaldism initiation in this family.

Key words: Piebaldism, KIT, slicing site mutation