規制性SNPは,新しい転写プロモーターを作成することによって,ヒトの遺伝疾患を引き起こす

Marco De Gobbi1, Vip Viprakasit, Jim R Hughes

  • 1Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, OX3 9DS, UK.

Science (New York, N.Y.)
|May 27, 2006
PubMed
まとめ

研究者らは,珍しい遺伝性血液疾患であるアルファタラセミアを引き起こす新しい遺伝的メカニズムを発見した. 単一の規制DNAの変化は,アルファグロービン遺伝子の正常な機能を妨げ,遺伝疾患の洞察を提供します.

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