纤维蛋白原FGB基因插入突变所致遗传性无纤维蛋白原血
症的发病机制
张剑;赵小娟;王兆钺;余自强;曹丽娟;马珍妮;张杰;张威;白霞
【期刊名称】《中华血液学杂志》 【年(卷),期】2013(034)009
【摘要】Objective To investigate the genetic defect and its mechanism in a patient with congenital afibrinogenemia.Methods The plasma fibrinogen activity and antigen of the patient was determined using the Clauss method and immuno-nephelometric assay,respectively.Genomic DNA was isolated from peripheral blood of the proband and his related family members.All exons and exon-intron boundaries of the three fibrinogen genes (FGA,FGB,FGG) were amplified by PCR followed by direct sequencing.Thrombin fibrin aggregation curve were detected in the plasma of the patient.Wild-type and mutation type fibrinogen vectors were constructed,and then transfected into COS-7 cells.The wild-type and mutant proteins from the culture media and cell lysates were tested by Western blot and ELISA.Results APTT,PT,TT were significantly longer in the proband.Plasma fibrinogen activity and antigen of the patient could not be detected using the Clauss method and immuno-nephelometry,respectively.Gene analysis revealed that a novel homozygous GTTT insertion between nucleotides 2833 and 2834 in FGB exon 2 in the proband.The proband' s father,mother,brother and
纤维蛋白原FGB基因插入突变所致遗传性无纤维蛋白原血症的发病机制
