265 research outputs found
Exonic polymorphisms in the protein C gene: interethnic comparison between Caucasians and Asians
No full text Plasma protein C deficiency is associated with inherited thrombotic disease. Allelic frequencies of five previously reported DNA polymorphisms and a new polymorhic site (C 8480 T) were calculated in Asian and American Caucasian indiveduals by direct genomic sequencing and compared to previous reports.#0297
R147w Mutation of Proc Gene Is Common in Venous Thrombotic Patients in Taiwanese Chine
No full textWe analyzed the genetic defects of 21 unrelated patients with venous thrombosis in whom hereditary protein C deficiency was diagnosed. Eleven mutations were detected in 18 families, while no mutation was detectable in the other three families. Among these mutations, a common genetic mutation of protein C (PROC) gene recurred in 43% (nine- propositi from these 21 families). This C6152T mutation at exon 7 resulted in a missense mutation, Arg147Trp (R147W). Each propositus or family carrier had another specific polymorphism T66C at exon 2, which did not change the proline at position (-21). The haplotype analysis strongly suggested a founder effect. The first thrombotic attack was significantly younger in patients with multiple genetic defects or combined with other risk factors than those without precipitating factors. We further studied the prevalence rate of R147W mutations in normal populations through PCR amplification and dot hybridization. Three different cohorts got similar results. The prevalence rate of R147W in health controls is 0.85% [95% confidence interval (CI) 0.35-1.35]. Analysis of plasma protein C levels of all patients or carriers suggested that R147W was a type 11 deficiency. The odds ratio of thrombosis of R147W is 5.1 (95% CI 1.7-14.8). Taken together , R147W mutation is a significant thrombotic risk factor and is the most common defect of PROC gene in Taiwanese patients with protein C deficiency . This finding is important for screening thrombophilic families in Chinese populations. (C) 2004 Wiley-Liss, Inc
Inhibitor Development in Previously Treated Patients with Hemophilia a after Switch to Recombinant Factor Viii
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Long-Term Disease-Free Survival after Autologous Bone Marrow Transplantation in a Primary Plasma Cell Leukemia:Detection of Minimal Residual Disease in the Transplant Marrow by Third-Complementarity- Determining Region-Specific Probes
No full textAge, sex and vitamin status affect plasma level of homocysteine, but hyperhomocysteinaemia is possibly not an important risk factor for venous thrombophilia in Taiwanese Chinese
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蛋白C缺乏及蛋白S缺乏是台灣中國人靜脈栓塞好發症最重要之危險因子
No full textThe relative risks (odds ratio, OR) of various risk factors for venous thrombophilia, including sex, antithrombin III, protein C (PC), protein S (PS) and plasminogen deficiencies, and C677T homozygous mutation of methylenetetrahydrofolate reductase gene were assessed using age matched ( +/-5 years) conditional logistic regression analysis in 116 Chinese venous thrombophilic patients (58 males; 58 females; mean age 47.5+/-17.7 [SD] years) and 125 healthy controls (67 males; 58 females; mean age 45.5+/-15. 7 years). None of the patients had prothrombin G20210A and factor V Leiden mutation or an activated PC sensitivity ratio of less than 2 . One hundred and five age-matched patients and 105 controls were entered in this analysis. Only PC and PS deficiencies were significantly associated with increased risk for the development of thrombosis with an OR of 10.6 and 6.7, respectively. The findings of this study suggest that PC deficiency and PS deficiency are the most important risk factors for thrombosis in Chinese venous thrombophilic patients
Factor V Arg306->Gly Mutation Is Not Associated with Activated Protein C Resistance and Is Rare in Taiwanese Chinese
No full textPolymerase chain reaction amplification followed by BstO1 enzyme digestion and DNA sequencing was employed to detect the mutation of factor V gene. The subjects consisted of 105 venous thrombophilic patients and 183 healthy controls. Only one patient was found to have factor V Arg306-> Gly mutation, his elder son also had an identical mutation. None of the healthy subjects studied had Arg306->Thr mutation. The rare event of factor V Arg306->Gly mutation in patients and controls suggest that this mutation is not associated with increased risk of venous thrombosis. Conventional, modified and extended activated protein C (APC) resistance assay in this patient and his family members clearly showed that factor V Arg306->Gly mutation is not associated with APC resistance (APC sensitivity ratio Gly mutation is rare in Taiwanese Chinese and not associated with APC resistance, it is possibly not a risk factor for venous thrombophilic thrombosis
The Mutation at Position 20210 in the 3'-Untranslated Region of the Prothrombin Gene Is Extremely Rare in Taiwanese Chinese Patients with Venous Thrombophilia
No full textWe conducted a case-control study to elucidate the association of prothrombin 20210A mutation with venous thrombophilia in Taiwanese Chiense . One hundred and eleven verified Chinese venous thrombophilic patients and 149 apparently healthy and age-matched individuals without any history of vernous thrombosis were recruited from National Taiwan University Hospital. Prothrombin 20210A mutation was detected by Hind III digestion on PCR-amplified DNA segments . We did not find any heterozygote (G/A) or homozygote (A/A) at position 20210 in venous thrombophilc patients and healthy individuals. We concluded prothrombin 20210A mutation was not an important cause of venous thrombophilia in Chinese
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