摘要
目的 检测 1例凝血因子Ⅹ缺陷患者的基因突变。方法 PCR对凝血因子Ⅹ基因进行扩增 ,扩增范围包括因子Ⅹ基因的所有外显子及其侧翼内含子序列 ,用DNA测序检测因子Ⅹ的基因突变。结果 因子Ⅹ基因外显子 1第 5 8位核苷酸存在T→G的突变 ,从而导致在外显子 1编码的信号肽中 11Ser(AGT)→Arg(AGG)的错义突变。结论 该基因突变可能是导致患者因子Ⅹ缺陷的原因。
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.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
2001年第9期481-483,共3页
Chinese Journal of Hematology
