A factor XI deficiency associated with a nonsense mutation (Trp501stop) inthe catalytic domain

Citation
K. Iijima et al., A factor XI deficiency associated with a nonsense mutation (Trp501stop) inthe catalytic domain, BR J HAEM, 111(2), 2000, pp. 556-558
Citations number
10
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Hematology,"Cardiovascular & Hematology Research
Journal title
BRITISH JOURNAL OF HAEMATOLOGY
ISSN journal
0007-1048 → ACNP
Volume
111
Issue
2
Year of publication
2000
Pages
556 - 558
Database
ISI
SICI code
0007-1048(200011)111:2<556:AFXDAW>2.0.ZU;2-E
Abstract
We identified a novel mutation in an asymptomatic 65-year-old Japanese man with severe factor XI deficiency. Sequence analysis after polymerase chain reaction single-stranded conformation polymorphism (PCR-SSCP) analysis of h is factor XI gene revealed a G -->A transition in codon 501 of exon 13, res ulting in a substitution of Trp501 (T (G) under barG) by a stop codon (T (A ) under barG) in the catalytic domain. This mutation abolished a FokI restr iction site. The PCR product from normal subjects was digested with FokI an d yielded two fragments, one of 223 bp and one of 47 bp. The PCR product fr om the patient gave a single 270-bp fragment, demonstrating possible homozy gosity.