Discrimination between normal wildtype and carriers of coagulation factor V Leiden mutation by the activated protein C resistance test in the presence of factor V deficient plasma.
نویسندگان
چکیده
Blood samples from 104 patients with clinically suspected thrombophilia were analyzed for coagulation factor V Leiden mutation (1691, G-->A) by allele-specific polymerase chain reaction. In 86 individuals (82.7%), the mutation was not detectable, whereas 15 patients (14.4%) were heterozygous and three patients (2.9%) were homozygous for factor V Leiden mutation. Plasma samples from these individuals were also tested for functional resistance of coagulation factor V to activated protein C (activated protein C resistance). This test was performed on a Schnitger-Gross coagulometer using an activated partial thromboplastin time-based activated protein C resistance test modified by applying a 1 : 5 dilution with factor V-deficiency plasma. All the individuals negative for factor V Leiden mutation were also negative in the functional activated protein C resistance test. On the other hand, all patients carrying the mutation revealed pathologic results in the activated protein C resistance test. The cutoff value for the activated protein C resistance index (> or = 1.7 = negative) was determined by testing 31 male and female blood donors. One of them was heterozygous for factor V Leiden mutation and had an activated protein C resistance index of 1.4, whereas those without factor V Leiden mutation had an activated protein C resistance index of 1.9 +/- 0.1 (mean +/- SD). Patients with clinically suspected thrombophilia without factor V Leiden mutation had an activated protein C resistance index of 2.1 +/- 0.2 (mean +/- SD), whereas patients heterozygous for the mutation had an index of 1.5 +/- 0.1 (mean +/- SD). Within the group of patients carrying the mutation, the activated protein C resistance test even distinguished between heterozygous and three homozygous (activated protein C resistance 1.0 to 1.2) carriers. The data demonstrate that the activated protein C resistance test in the presence of factor V-deficiency plasma provides a clear-cut discrimination between normal wildtype and carriers of factor V Leiden mutation with a sensitivity and specificity of 100%. Verification of positive activated protein C resistance tests can be performed easily with a simple and reliable polymerase chain reaction protocol for the 1691, G-->A mutation.
منابع مشابه
Evaluation of Some Plasma Coagulation Factors in Women with Spontaneous Miscarriage
Background It has been reported that 15-20% of parous female have experienced at least one miscarriage, while 3% of them have experienced two miscarriages. The goal of this study was to evaluate the plasma level of coagulation factors in women with a history of spontaneous abortions. MaterialsAndMethods In this case-control study, 82 women with a history of two or more abortions referred to the...
متن کاملDetermination of Serum C, S Proteins and Factor V Leiden among Patients with Sickle Cell Disorder at Khuzestan Province, Iran
Background: Sickle cell disease occurs due to a mutation in β chains and the substitution of valine instead of glutamate in the sixth position of the ß-chain that causes polymerization and vascular blockage. The aim of this study was to compare the serum C, S proteins and factor V Leiden between sickle cell patients and the control group. Materials and Methods: In this case-control study, perf...
متن کاملFrequency of Factor V Leiden and Prothrombin Polymorphism in South of Iran
Normal hemostasis requires balanced regulation of prothrombotic and antithrombotic factors. Inherited alteration of factor V and prothrombin gene, the G20210A mutation, increases the resistance of factor V to degradation and booster production of prothrombin respectively. These alterations can increase hypercoagulability leading to thrombotic consequences. We aimed to assess the frequencies of ...
متن کاملموتاسیون ژن فاکتور V لیدن در بیماران مبتلا به سندرم بهجت و ارتباط آن با علایم بالینی
Background: Behcet’s disease (BD) is a multisystemic inflammatory disease with unknown origin characterized by recurrent oral aphtous ulcers, genital, ocular and skin lesions. A single point mutation 1691G to A in the factor V gene increases the risk of venous thrombosis. This study designed to determine factor V Leiden mutation in Behcet’s disease, and to find out it's relationship with the cl...
متن کاملHigh sensitivity and specificity of a coagulation assay for the detection of heterozygous and homozygous factor V Leiden--based resistance to activated protein C.
To the Editor: 70 nmol/L, 35 nmoUL, 14 nmollL, 7 nmol/L, and 0 nmol/L APC, corresponding to loo%, 50%, 20%, lo%, and 0% factor Va inactivaResistance to activated protein C (APC). caused by a mutated tion, respectively. Here we will summarize our current experience Coagulation factor v (factor v Leiden), has been reported as a prediswith this modified functional assay for the detection of factor...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies
دوره 35 1 شماره
صفحات -
تاریخ انتشار 1997