中华皮肤科杂志 ›› 2004, Vol. 37 ›› Issue (6): 332-334.

• 论著 • 上一篇    下一篇

一个先天性角化不良家系中DKC1基因突变的检测

丁颖果, 姜薇, 杨勇, 卜定方, 陈喜雪, 涂平, 朱学骏   

  1. 北京大学第一医院皮肤性病科 100034
  • 收稿日期:2003-06-14 出版日期:2004-06-15 发布日期:2004-06-15
  • 基金资助:
    北京市自然科学基金资助(7012020)

Mutation of DKC1 Gene in a Family of Dyskeratosis Congenita

DING Ying-guo, JIANG Wei, YANG Yong, BU Ding-fang, CHEN Xi-xue, TU Ping, ZHU Xue-jun   

  1. Department of Dermatology and Venereology, Peking University First Hospital, Beijing 100034, China
  • Received:2003-06-14 Online:2004-06-15 Published:2004-06-15

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摘要： 目的 研究先天性角化不良(DKC)一家系的基因突变情况和遗传方式.方法 采用聚合酶链反应-DNA直接测序方法检测DKC1基因的突变,并用限制性内切酶酶切方法鉴定和检测DKC1基因的突变.结果 家系中2例患者均存在DKC1基因的1058C→T突变,从而导致编码蛋白—角化不良素(dyskerin)发生A353V突变.其母亲和姐姐为该突变的杂合子,但表型正常.结论 该家系为X性联隐性遗传型DKC,存在DKC1基因1058C→T突变.

关键词: 角化不良,先天性, 点突变

Abstract: Objective To identify the mutation of DKC1 gene and its inheritance in a pedigree with dyskeratosis congenita (DKC). Methods The mutation was detected by polymerase chain reaction(PCR)and DNA sequencing, and restriction endonuclease digestion was performed to confirm the mutation. Results A transition mutation of C to T (1058C-T) in DKC1 gene was found in the proband and his brother. This mutation results in an amino acid change from alanine to valine (A353V) in dyskerin protein. The proband's mother and sister were carriers of this mutation gene with no phenotype of DKC. Conclusion This pedigree is an X-linked form of DKC with 1058C-T mutation in DKC1 gene.

Key words: Dyskeratosis congenita, Point mutation