中华皮肤科杂志

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先天性角化不良的一个新的基因突变

王建琴1, 王汉平2, 吴玉才4, 谢健晋2, 许志萍1, 许剑荣1, 孙广政1, 方瑞华1, 毛平3, 曾仁山1   

  1. 1. 广州市第一人民医院皮肤科 510180;
    2. 广州市第一人民医院中心实验室 510180;
    3. 广州市第一人民医院血液科 510180;
    4. 广东医学院研究生
  • 收稿日期:2005-12-20 出版日期:2006-04-15 发布日期:2006-04-15
  • 基金资助:
    广东省医学科研基金(A2002574)

A novel mutation in DKC1 gene in a patient with dyskeratosis congenita

WANG Jian-qin1, WANG Han-ping2, WU Yu-cai4, XIE Jian-jin2, XU Zhi-ping1, XU Jian-rong1, SUN Guang-zheng1, FANG Rui-hua1, MAO Ping3, ZENG Ren-shan1   

  1. Department of Dermatology, First Municipal People's Hospital of Guangzhou, Guangzhou 510180, China
  • Received:2005-12-20 Online:2006-04-15 Published:2006-04-15

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摘要： 目的 检测一例先天性角化不良(DKC)患者DKC1基因的突变情况。方法 采用PCR技术扩增DKC1基因的15个外显子,然后采用变性高效液相色谱(DHPLC)技术进行基因突变筛查,对筛查结果异常的外显子进行DNA测序:基因突变的验证在100例无相关遗传性疾病的无关男性中进行。结果 患者DKC1基因的第12号外显子呈异常的DHPLC洗脱峰,家庭其他成员及正常群体对照未见此异常洗脱峰。测序结果显示患者DKC1基因第12外显子的1236位碱基由G→T,导致W412C突变,家庭其他成员及正常群体对照均未见此突变。结论 我们检测到的患者DKC1基因W412C是一个新的散发性突变,它可能导致患者先天性角化不良。

关键词: 角化不良, 先天性, 基因, DKCl, 突变

Abstract: Objective To detect the mutation in DKC1 gene in a patient with dyskeratosis congenita.Methods Fifteen exons of DKC1 gene were amplified by polymerase chain reaction (PCR),and the products were screened for mutations by denaturing high performance liquid chromatography (DHPLC) technology,then DNA sequencing was performed for abnormal exons as shown by DHPLC.The gene mutations were verified within 100 unrelated male individuals without dyskeratosis congenita.Results An abnormal DHPLC elution peak was found in exon 12 of DKC1 gene of the patient,but not in other family members or normal individuals.DNA sequencing showed a 1236G→T transition in DKC1 gene in the patient,which resulted in a 412W→C substitution in DKC1.No mutation was found in other family members and normal individuals.Conclusion The 1236G→T transition in the patient is a novel mutation in DKC1 gene,which could be a causative factor of dyskeratosis congenita.

Key words: Dyskeratosis congenita, Genes,DKC1, Mutation