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Identification of a Novel Mutation and a De Novo Mutation in DKC1 in Two Chinese Pedigrees with Dyskeratosis Congenita  Ying-guo Ding, Tie-shan Zhu, Wei.

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Presentation on theme: "Identification of a Novel Mutation and a De Novo Mutation in DKC1 in Two Chinese Pedigrees with Dyskeratosis Congenita  Ying-guo Ding, Tie-shan Zhu, Wei."— Presentation transcript:

1 Identification of a Novel Mutation and a De Novo Mutation in DKC1 in Two Chinese Pedigrees with Dyskeratosis Congenita  Ying-guo Ding, Tie-shan Zhu, Wei Jiang, Yong Yang, Ding-fang Bu, Ping Tu, Xue-jun Zhu, Bao-xi Wang  Journal of Investigative Dermatology  Volume 123, Issue 3, Pages (September 2004) DOI: /j X x Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 The two DKC pedigrees and mutation identification by endonuclease restriction enzyme digestion. Arrow, proband; star, DNA sample available; M, pBR322 DNA/MspI marker; N, normal control. (a) The first pedigree. (b) the second pedigree, (c) PCR products amplified from exon 12 of DKC1 were digested with BspMI and separated in polyacrylamide gel, and (d) PCR products from exon 11 of DKC1 were digested with MspA1 I and separated in polyacrylamide gel. Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Direct sequencing of PCR products amplified from DKC1 gene (GenBank accession number NT ). Arrows indicate the positions of mutated bases. (a–d) Sequencing of PCR products from exon 12. (a) 1226C→T mutation from the proband (III:13) of the first pedigree. (b) Sequencing from the opposite direction confirms the 1226C→T mutation from the proband. (c) Heterozygous 1226C→T mutation from family member II:9 of the first pedigree. (d) Sequencing of a normal control. (e–g): Sequencing of PCR products from exon 11. (e) 1058C→T mutation from the proband (IV:2) of the second pedigree. (f) Heterozygous 1058C→T mutation from family member III:7 of the second pedigree. (g) Sequencing of a normal control. Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

4 Figure 3 Clinical data of the DKC proband in the first pedigree. (a) Hyperpigmentation, hypopigmentation, and fine telangiectatic erythema on the neck. (b, c) Dystrophy of nails. (d, e) Dystrophy with patches of leukoplakia on tongue and coronary sulcus of the penis. (f) Skin biopsy from a hyperpigmentation site shows atrophic epidermis with areas of hyperpigmentation in the basal layer, and melanophages, telangiectasia, and mild infiltration of inflammatory cells in the superficial dermis. Blister beneath the epidermis due to liquefaction degeneration of the basal cells. Scale bar=100 μm. Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

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