Polymorphism in the promoter region of von Willebrand factor gene and von Willebrand disease type 1

von Willebrand factor (VWF) is a complex multimeric plasma glycoprotein encoded by an approximately 178-kb large VWF gene located on the short arm of chromosome 12 (12p13.2). VWF plays an important role in hemostasis through binding with platelet GpIbalpha receptors. We made an attempt to correlate the 789Ala/Ala genotype of the VWF with VWF:Ag level in different types of unrelated von Willebrand disease (VWD) patients and healthy controls. VWF assays and other coagulation screening tests have been done for all 103 (50 male, 53 female) different types of index VWD patients including 19 type 1, 55 type 2, and 29 type 3 VWD patients. Genotypes were detected by polymerase chain reactions followed by restriction fragment length polymorphism. The genotype 789Ala/Ala was found in 26.3% type 1 and in 31.0% type 3 patients. This genotype was not found in any of type 2 patient or healthy controls. Overall, 789Ala/Ala genotype was found significantly higher (P < 0.001) in quantitative type (type 1 and type 3) VWD that is occurred due to low VWF:Ag level. These results demonstrate that mutant homozygous 789Ala/Ala genotype of this polymorphism probably have their functional implications for low plasma VWF:Ag level in quantitative type of VWD.

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Impact of 789Ala/Ala genotype on quantitative type of von Willebrand disease

Ahmad

Kannan

Biswas

et al. 2008

Ann Hematol

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Menorrhagia and bleeding disorders

El-Hemaidi

Gharaibeh

Shehata

2007

Current Opinion in Obstetrics &Amp; Gynecology

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In the UK, 20% of all women, and 30% in the USA, have a hysterectomy before the age of 60; menorrhagia is the main presenting problem in at least 50-70%. In approximately 50% of cases, no organic pathology is determined, and dysfunctional uterine bleeding is diagnosed. Diagnosis and management of bleeding disorders may possibly reduce the need for surgical intervention, leading to a positive impact on women and the health service.

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Israel Roisenberg (1934-2013): a life dedicated to science

Salzano

2014

Genet. Mol. Biol.

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Historians of science have continuously searched for the factors which determine why certain persons achieve proeminence in the area. Of prime importance, of course, is their biological constitution; only persons with a given degree of intelligence can reach success. But there are many additional factors which are also important, including work drive, persistence, as well as appropriate family and academic environments. This combination of factors led to Israel Roisenberg's brilliant career, and the main events of his life are listed in Table 1. He was born in Porto Alegre on July 31, 1934, where he lived all his life, except for varied periods of time in São Paulo and outside Brazil. After primary and secondary education (the latter in a public school, Colégio Júlio de Castilhos), he was approved in the Federal University of Rio Grande do Sul (UFRGS) entrance exam for the Biological Sciences Career in 1958. Soon he developed an interest in research, and as a consequence I invited him to work as an undergraduate student in our laboratory. He graduated in 1961 and soon afterwards received a contract as a Biologist at UFRGS. Our PostGraduate Program was just starting at the time, but he also immediately enrolled as a Ph.D. student.

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Polymorphism in the promoter region of von Willebrand factor gene and von Willebrand disease type 1

Cited by 3 publications

References 35 publications

Impact of 789Ala/Ala genotype on quantitative type of von Willebrand disease

Impact of 789Ala/Ala genotype on quantitative type of von Willebrand disease

Menorrhagia and bleeding disorders

Israel Roisenberg (1934-2013): a life dedicated to science

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