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Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with dyskeratosis congenita
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
2004-09-01
DOI10.1111/j.0022-202X.2004.23228.x
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
引用统计
被引频次:7[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/61604
专题北京大学第一临床医学院
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
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GB/T 7714
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.
APA Ding, YG.,Zhu, TS.,Jiang, W.,Yang, Y.,Bu, DF.,...&Wang, BX.(2004).Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with dyskeratosis congenita.JOURNAL OF INVESTIGATIVE DERMATOLOGY,123(3),470-473.
MLA Ding, YG,et al."Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with dyskeratosis congenita".JOURNAL OF INVESTIGATIVE DERMATOLOGY 123.3(2004):470-473.
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