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Title

GENETIC VARIATIONS IN EXON 3 OF VWF GENE IN PATIENTS WITH VON WILLEBRAND DISEASE (VWD) FROM SOUTH-WEST IRAN

Pages

 Start Page 30 | End Page 34

Keywords

(POLYMORPHISM 
SINGLE NUCLEOTIDE) 

Abstract

 Background: VON WILLEBRAND DISEASE (VWD) is an autosomally inherited bleeding disorder with the prevalence of 1% based on population studies. The disease phenotype is due to quantitative and structural/functional defects in VON WILLEBRAND FACTOR (VWF) which is a glycoprotein with essential role as a carrier of FVIII in circulation and also it serves the function as hemostasis regulator. VWF is encoded by a large gene located on chromosome 12 which spans 178kb and has 52 exons.Many different mutations are known in VWF gene that can affect the VWD phenotypic features.Materials and Methods: In this study we evaluated genetic variations in exon 45 of VWF gene in Iranian patients suffer from VWD from South-west Iran. Materials and Methods: 36 patients diagnosed with VWD (11 males and 25 females), with different ages, from Khuzestan province are participated in the investigation.Exon 3 with the flanking intronic sequences was amplified by PCR and the amplicons were analyzed by sequencing for any genetic changes (mutations and Single Nucleotide Polymorphism (SNPs)).Results: No mutation was found in our patients in this exon. A novel SNP was recognized in all patients in a homozygous manner, T/C in intron 3.Conclusion: Although previous molecular investigations of VWD in Iran and some neighboring countries documented several mutations in exon 3, our research showed some contradictory result. The results of our study provided a new insight for further studies, not integrating exon 3 in their analysis.

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