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This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Grundy, C. B. Articles by Cooper, D. N. Search for Related Content PubMed PubMed Citation Articles by Grundy, C. B. Articles by Cooper, D. N. Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Recurrent deletion in the human antithrombin III gene CB Grundy, F Thomas, DS Millar, M Krawczak, E Melissari, V Lindo, E Moffat, VV Kakkar and DN Cooper Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London, UK. Eight unrelated patients with recurrent thromboembolism, a family history of thrombosis, and plasma antithrombin III (ATIII) activity/antigen levels consistent with a diagnosis of heterozygous type I ATIII deficiency were studied by polymerase chain reaction/direct sequencing of ATIII gene exon-coding regions. Frameshift mutations of one base and two bases, respectively, were found to have occurred in two unrelated patients at the same GAG codon (Glu 245) within exon 4 of the ATIII gene. A literature search showed six further hitherto unrecognized deletion "hotspots" in four other human genes. These deletion-prone sites exhibited sufficient sequence homology with each other to derive a consensus sequence (T G A/G A/G G A/C), suggesting that deletion in human genes may not only be non- random but also sequence-directed. Volume 78, Issue 4, pp. 1027-1032, 08/15/1991 Copyright © 1991 by The American Society of Hematology CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: Y. Kikkawa, A. Oyama, R. Ishii, I. Miura, T. Amano, Y. Ishii, Y. Yoshikawa, H. Masuya, S. Wakana, T. Shiroishi, et al. A Small Deletion Hotspot in the Type II Keratin Gene mK6irs1/Krt2-6g on Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation Genetics, October 1, 2003; 165(2): 721 - 733. [Abstract] [Full Text] [PDF] R. L. Bick and H. Kaplan Syndromes of Thrombosis and Hypercoagulability: Congenital and Acquired Thrombophilias Clinical and Applied Thrombosis/Hemostasis, January 1, 1998; 4(1): 25 - 50. [Abstract] [PDF]

	Copyright © 1991 by American Society of Hematology         Online ISSN: 1528-0020