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A novel mutation that leads to a congenital factor XI deficiency in a Japanese family

✍ Scribed by Sato, Eriko; Kawamata, Norihiko; Kato, Atsushi; Oshimi, Kazuo

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 175 KB
Volume: 63
Category: Article
ISSN: 0361-8609
DOI: 10.1002/(sici)1096-8652(200004)63:4<165::aid-ajh1>3.0.co;2-q

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✦ Synopsis

We have identified a novel mutation leading to a congenital deficiency of the coagulation factor XI (FXI) in a Japanese family. A propositus was a 42-year-old female patient without bleeding tendency. Coagulant activity and the antigen level of FXI in her plasma were below the detectable range. The nucleotide sequences of the FXI gene of this patient were determined by a direct sequence method established in this study. A novel nonsense mutation (CAA; Gly263 → TAA; stop) was identified in exon 8 of the FXI gene. Her parents are first cousins, and a polymerase chain reaction-restriction-fragment length polymorphism analysis revealed that her parents were heterozygous at this nucleotide position. This patient inherited mutant alleles from her parents and is homozygous at this nucleotide position. The nonsense mutation in the FXI gene is responsible for her deficiency of FXI.

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