One missense mutation in the factor X gene causing factor X deficiency--factor X Kanazawa.
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.
Morishita
E
E
Department of Laboratory Sciences, School of Health Science, Kanazawa University, Japan. eriko@med3.m.kanazawa-u.ac.jp
Yamaguchi
K
K
Asakura
H
H
Saito
M
M
Yamazaki
M
M
Ontachi
Y
Y
Mizutani
T
T
Kato
M
M
Nakao
S
S
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
D003062:Codon; C433876:factor X Kanazawa; D005170:Factor X