title: One missense mutation in the factor X gene causing factor X deficiency--factor X Kanazawa.
abstract: We investigated the molecular basis of factor X deficiency in a Japanese patient whose factor X activity and antigen level were 45% and 50% of normal control values, respectively. All exons and intron/exon junctions of the factor X gene were studied using a strategy combining polymerase chain reaction (PCR) amplification and nonradioactive single-strand conformational polymorphism (SSCP) analysis. Exon 5, containing the DNA fragment of the proband, showed aberrant migration by SSCP analysis. All exon-containing DNA fragments amplified by PCR were sequenced, and it was revealed that the proband was a heterozygote for a G --> A substitution in exon 5 of the factor X gene of the proband. This mutation predicts an amino acid replacement of arginine (Arg) for glycine (Gly) at codon 114 in the second EGF-like domain.
authors.affiliation: Department of Laboratory Sciences, School of Health Science, Kanazawa University, Japan. eriko@med3.m.kanazawa-u.ac.jp
authors.forename: E
authors.initials: E
authors.lastname: Morishita
authors.forename: K
authors.initials: K
authors.lastname: Yamaguchi
authors.forename: H
authors.initials: H
authors.lastname: Asakura
authors.forename: M
authors.initials: M
authors.lastname: Saito
authors.forename: M
authors.initials: M
authors.lastname: Yamazaki
authors.forename: Y
authors.initials: Y
authors.lastname: Ontachi
authors.forename: T
authors.initials: T
authors.lastname: Mizutani
authors.forename: M
authors.initials: M
authors.lastname: Kato
authors.forename: S
authors.initials: S
authors.lastname: Nakao
mesh_terms: D000368:Aged; D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D004844:Epistaxis / Q000209:etiology; D005170:Factor X / Q000235:genetics*; D005171:Factor X Deficiency / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009298:Nasal Polyps / Q000601:surgery; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011183:Postoperative Complications / Q000209:etiology
chemical_list: D003062:Codon; C433876:factor X Kanazawa; D005170:Factor X