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[Clotting factor X deficiency resulted from an T 58-->G mutation within exon 1 of human factor X gene]
1Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
|January 5, 2002
Abstract
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.
Result:
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.
Conclusion:
This nucleotide substitution might be the molecular etiology of factor X deficiency.