scholarly journals von Willebrand Factor Gene Polymorphism in Preeclampsia Pregnant at Medan, Indonesia

2021 ◽  
Vol 9 (A) ◽  
pp. 1047-1051
Author(s):  
Dewi Indah Sari Siregar ◽  
Muhammad Fidel Ganis Siregar ◽  
Gontar Alamsyah Siregar ◽  
Syah Mirsya Warli
Keyword(s):  
Gene Polymorphism ◽  
Von Willebrand Factor ◽  
Coagulation Factor ◽  
Wild Type ◽  
Chain Reaction ◽  
Factor Gene ◽  
Sequencing Method ◽  
Polymerase Chain ◽  
Von Willebrand ◽  
Willebrand Factor

BACKGROUND: von Willebrand Factor (vWF) is a large glycoprotein mediating hemostasis and thrombosis. The roles of vWF are platelets adhesion to sites of vascular damage and stabilization of coagulation factor VIII. AIM: This study aimed to analyze the polymorphism of the vWF gene on preeclampsia (PE) in pregnancy in Medan, Indonesia. MATERIALS AND METHODS: DNA was amplified using the polymerase chain reaction and was electrophoresed in agarose 2%. Electrophoresis results were detected using Gel Doc 1000 (Biorad, USA). The sequencing method was used to identify polymorphism from vWF gene. RESULTS: From 50 samples of PE patients, the g.93308C>T vWF gene polymorphism was found with the percentage of TT, CT, and CC genotypes as 50%, 42%, and 8%, respectively. CONCLUSION: The c.93308C>T vWF gene polymorphism was found in the genotype percentage of homozygous TT, and heterozygote CT was greater than wild-type CC.

Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction

Biochemistry ◽  
1991 ◽  
Vol 30 (1) ◽  
pp. 253-269 ◽  
Author(s):  
David J. Mancuso ◽  
Elodee A. Tuley ◽  
Lisa A. Westfield ◽  
Teresa L. Lester-Mancuso ◽  
Michelle M. Le Beau ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Structural Analysis ◽  
Von Willebrand Factor ◽  
Chain Reaction ◽  
Factor Gene ◽  
Polymerase Chain ◽  
Von Willebrand ◽  
Willebrand Factor

scholarly journals Correlation of von Willebrand factor gene polymorphism and coronary heart disease

2012 ◽  
Vol 6 (5) ◽  
pp. 1107-1110 ◽  
Author(s):  
AI-GUO XU ◽  
RONG-MEI XU ◽  
CHANG-QING LU ◽  
MENG-YING YAO ◽  
WEI ZHAO ◽  
...  
Keyword(s):  
Coronary Heart Disease ◽  
Heart Disease ◽  
Gene Polymorphism ◽  
Von Willebrand Factor ◽  
Factor Gene ◽  
Von Willebrand ◽  
Willebrand Factor

Association between von Willebrand factor gene polymorphism and preeclampsia

2009 ◽  
Vol 37 (1) ◽  
Author(s):  
Chengjuan Sun ◽  
Ying Chen ◽  
Weiyuan Zhang ◽  
Song Yu
Keyword(s):  
Gene Polymorphism ◽  
Von Willebrand Factor ◽  
Factor Gene ◽  
Von Willebrand ◽  
Willebrand Factor

The Genetic Defect of Type I von Willebrand Disease “Vicenza” Is Linked to the von Willebrand Factor Gene

1993 ◽  
Vol 69 (02) ◽  
pp. 173-176 ◽  
Author(s):  
Anna M Randi ◽  
Elisabetta Sacchi ◽  
Gian Carlo Castaman ◽  
Francesco Rodeghiero ◽  
Pier Mannuccio Mannucci
Keyword(s):  
Von Willebrand Factor ◽  
Autosomal Dominant ◽  
Genetic Defect ◽  
Von Willebrand Disease ◽  
Type I ◽  
Bleeding Tendency ◽  
Factor Gene ◽  
Low Levels ◽  
Von Willebrand ◽  
Willebrand Factor

SummaryType I von Willebrand disease (vWD) Vicenza is a rare variant with autosomal dominant transmission, characterized by the presence of supranormal von Willebrand factor (vWF) multimers in plasma, similar to those normally found in endothelial cells and megakaryocytes. The patients have very low levels of plasma vWF contrasting with a mild bleeding tendency. The pathophysiology of this subtype is still unknown. The presence of supranormal multimers in the patients’ plasma could be due to a mutation in the vWF molecule which affects post-translational processing, or to a defect in the cells’ processing machinery, independent of the vWF molecule. In order to determne if type I vWD Vicenza is linked to the vWF gene, we studied six polymorphic systems identified within the vWF gene in two apparently unrelated families with type I vWD Vicenza. The results of this study indicate a linkage between vWF gene and the type I vWD Vicenza trait. This strongly suggests that type I vWD Vicenza is due to a mutation in one of the vWF alleles, which results in an abnormal vWF molecule that is processed to a lesser extent than normal vWF.

Characterization of Partial Gene Deletions in Type III von Willebrand Disease with Alloantibody Inhibitors

1994 ◽  
Vol 72 (02) ◽  
pp. 180-185 ◽  
Author(s):  
David J Mancuso ◽  
Elodee A Tuley ◽  
Ricardo Castillo ◽  
Norma de Bosch ◽  
Pler M Mannucci ◽  
...  
Keyword(s):  
Von Willebrand Factor ◽  
Von Willebrand Disease ◽  
Pcr Analysis ◽  
Gene Deletions ◽  
Factor Gene ◽  
Type Iii ◽  
Large Deletions ◽  
Von Willebrand ◽  
Willebrand Factor

Summaryvon Willebrand factor gene deletions were characterized in four patients with severe type III von Willebrand disease and alloantibodies to von Willebrand factor. A PCR-based strategy was used to characterize the boundaries of the deletions. Identical 30 kb von Willebrand factor gene deletions which include exons 33 through 38 were identified in two siblings of one family by this method. A small 5 base pair insertion (CCTGG) was sequenced at the deletion breakpoint. PCR analysis was used to detect the deletion in three generations of the family, including two family members who are heterozygous for the deletion. In a second family, two type III vWD patients, who are distant cousins, share an -56 kb deletion of exons 22 through 43. The identification and characterization of large vWF gene deletions in these type III vWD patients provides further support for the association between large deletions in both von Willebrand factor alleles and the development of inhibitory alloantibodies.

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