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A factor XI deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain
Author(s) -
Iijima Kenji,
Udagawa Akihide,
Kawasaki Hironaka,
Murakami Fumiyo,
Shimomura Tokio,
Ikawa Shiro
Publication year - 2000
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2000.02409.x
Subject(s) - nonsense mutation , exon , microbiology and biotechnology , transition (genetics) , mutation , genetics , stop codon , biology , single strand conformation polymorphism , polymerase chain reaction , gene , missense mutation
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 his factor XI gene revealed a G→A transition in codon 501 of exon 13, resulting in a substitution of Trp501 (T G G) by a stop codon (T A G) in the catalytic domain. This mutation abolished a Fok I restriction site. The PCR product from normal subjects was digested with Fok I and yielded two fragments, one of 223 bp and one of 47 bp. The PCR product from the patient gave a single 270‐bp fragment, demonstrating possible homozygosity.