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Pseudohomozygous APC Resistance Report on Two Patients and a Novel Mutation in the Factor V Gene

机译:伪象生的APC抗性报告两名患者和v基因的新突变

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Resistance to activated protein C (APC resistance) was identified as the cause of familial thrombophilia by Dahlback et al. in 1993 [4]. Only one year later the underlying genetic defect of the APC resistance has been demonstrated by Bertina and colleagues [1]. APC resistance is the result of the point mutation G 1691 A within exon 10 of the factor V gene. This mutation was named as factor V mutation "Leiden" and results in an exchange of the amino acid arginine (R) to glutamine (Q) at position 506 of the factor V protein. The altered factor V molecule is resistant to cleavage by activated protein C. As a consequence, factor V acts as a procoagulant and a thrombotic tendency results. Homozygosity for the 1691 A allele carries a markedly increased risk (80-100 fold) for venous thromboembolism and in the heterozygous state the risk is 7-10 fold greater than in normal subjects.
机译:鉴定了对活化蛋白C(APC抗性)的抗性作为Dahlback等人的家族血栓性血栓药物的原因。 1993年[4]。只有一年后,Bertina和同事证明了APC抗性的潜在遗传缺陷[1]。 APC电阻是因子V基因的外显子10内的点突变G 1691a的结果。该突变被命名为因子V突变“Leiden”,并导致在因子V蛋白的位置506处的氨基酸精氨酸(R)交换到谷氨酰胺(Q)。随着活化的蛋白C,改变的因子V分子是抗性的裂解。因此,因子V作为促凝血剂和血栓形成趋势结果。对于1691的纯合子,Allele的风险显着增加风险(80-100倍),用于静脉血栓栓塞,并且在杂合状态下,风险比正常受试者大7-10倍。

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