An Alu Insert as the Cause of a Severe Form of Hemophilia A (original) (raw)
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Case Reports| November 16 2001
aResearch Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia, and
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aResearch Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia, and
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bPediatric Clinic, Faculty of Medicine, Stara Zagora, Bulgaria
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bPediatric Clinic, Faculty of Medicine, Stara Zagora, Bulgaria
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aResearch Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia, and
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Acta Haematol (2001) 106 (3): 126–129.
Abstract
Alu sequences represent a specific human family of interspersed repetitive DNA, with a copy number in excess of 500,000 within the human genome. Alu repeats are rarely present in protein-coding regions of mature RNA, and only a few Alu insert mutations have been described so far. In this paper we present an Alu retroposition event in a family with a severe form of hemophilia A. The inserted Alu element belonging to the youngest Yb8 subfamily disrupts the reading frame at methionine 1224, exon 14 of the factor VIII gene, leading to a stop codon within the inserted sequence. This observation indicates that the retroposition of Alu elements is a continuing process possibly generating various human genetic defects.
References
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© 2001 S. Karger AG, Basel
2001
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