Recurrent deletion in the human antithrombin III gene
| Autor: | CB Grundy, F Thomas, DS Millar, M Krawczak, E Melissari, V Lindo, E Moffat, VV Kakkar, DN Cooper |
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| Rok vydání: | 1991 |
| Předmět: | |
| Zdroj: | Blood. 78:1027-1032 |
| ISSN: | 1528-0020 0006-4971 |
| DOI: | 10.1182/blood.v78.4.1027.bloodjournal7841027 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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