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学科主题: 临床医学
题名:
Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with dyskeratosis congenita
作者: Ding, YG; Zhu, TS; Jiang, W; Yang, Y; Bu, DF; Tu, P; Zhu, XJ; Wang, BX
关键词: DKC1 ; dyskeratosis congenita ; dyskerin ; mutation
刊名: JOURNAL OF INVESTIGATIVE DERMATOLOGY
发表日期: 2004-09-01
DOI: 10.1111/j.0022-202X.2004.23228.x
卷: 123, 期:3, 页:470-473
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Dermatology
研究领域[WOS]: Dermatology
关键词[WOS]: TELOMERASE RNA ; GENE ; COMPONENT
英文摘要:

Dyskeratosis congenita (DKC) is a rare and fatal congenital syndrome characterized by the triad of reticular skin pigmentation, nail dystrophy and mucosal leukoplakia, and the predisposition to bone marrow failure and malignancies. Mutations in DKC1 gene encoding dyskerin are responsible for the X-linked dyskeratosis congenita. Here we report mutation analysis of two Chinese pedigrees with dyskeratosis congenita. The 15 coding exons of DKC1 and their flanking regions were amplified from genomic DNA by PCR. DNA sequencing and restriction endonuclease digestion were used for mutation detection. Transition mutation of 1226C-->T (P409L) found in the first pedigree is a novel mutation. In the second pedigree, the proband′s mother phenotypically normal carried a de novo transition mutation of 1058C-->T (A353 V) in one allele, and transmitted the mutant allele to her two sons who had typical manifestations of dyskeratosis congenita.

语种: 英语
WOS记录号: WOS:000223155100009
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/61604
Appears in Collections:北京大学第一临床医学院_期刊论文

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作者单位: 1.Peking Univ, Hosp 1, Dept Dermatol & Venereol, Beijing 100034, Peoples R China
2.Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Dermatol, Beijing 100730, Peoples R China

Recommended Citation:
Ding, YG,Zhu, TS,Jiang, W,et al. Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with dyskeratosis congenita[J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY,2004,123(3):470-473.
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