[Clotting factor X deficiency resulted from an T 58-->G mutation within exon 1 of human factor X gene].
OBJECTIVE
To identify the genetic defect of a patient with clotting factor X deficiency (QGZ).


METHODS
PCR and DNA sequencing were used to screen mutation in factor X gene. PCR primers were designed covering all the coding regions for exon and flanking intron sequences.


RESULTS
A single nucleotide substitution T 58G in exon 1, which caused a missense mutation Ser(AGT) 11 Arg(AGG) in signal peptide, was identified by DNA sequencing.


CONCLUSIONS
This nucleotide substitution might be the molecular etiology of factor X deficiency.
Yin
J
J
Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
Wang
H
H
Wang
X
X
D001483:Base Sequence; D005091:Exons / Q000235:genetics; D005170:Factor X / Q000235:genetics*; D005171:Factor X Deficiency / Q000235:genetics*; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D021382:Protein Sorting Signals / Q000235:genetics*; D013912:Threonine / Q000235:genetics
D021382:Protein Sorting Signals; D013912:Threonine; D005170:Factor X; D005998:Glycine