PHENOTYPIC STUDY AND MOLECULA ANALYSIS OF VON WILLEBRAND TYPE 1 PATIENTS

BACKGROUND & OBJECTIVE: Von willebrand disease (VWD) is the most common bleeding disorder caused by von willbrand factor (VWF) deficiency and autosomal dominance inheritance pattern. It is divided into three types, one and three (quantitative) and type 2 (qualitative). Type one is known with mil...

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Autores principales:	SMB Hashemi Soteh, N Rezaei, A Goodeve
Formato:	article
Lenguaje:	EN FA
Publicado:	Babol University of Medical Sciences 2006
Materias:	von willebrand disease mutation detection molecular analysis Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/3b5fbcef22e649b9841b91c790cb5fbb
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id	oai:doaj.org-article:3b5fbcef22e649b9841b91c790cb5fbb
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spelling	oai:doaj.org-article:3b5fbcef22e649b9841b91c790cb5fbb2021-11-10T09:12:57ZPHENOTYPIC STUDY AND MOLECULA ANALYSIS OF VON WILLEBRAND TYPE 1 PATIENTS1561-41072251-7170https://doaj.org/article/3b5fbcef22e649b9841b91c790cb5fbb2006-08-01T00:00:00Zhttp://jbums.org/article-1-3005-en.htmlhttps://doaj.org/toc/1561-4107https://doaj.org/toc/2251-7170BACKGROUND & OBJECTIVE: Von willebrand disease (VWD) is the most common bleeding disorder caused by von willbrand factor (VWF) deficiency and autosomal dominance inheritance pattern. It is divided into three types, one and three (quantitative) and type 2 (qualitative). Type one is known with mild bleeding symptoms in comparison with type 3. The aim of this study was to determine the mutations responsible for the type one VWD.METHODS: DNA was extracted from affected members of the family with type 1 VWD and the von willebrand gene was amplified using 63 different PCR. Then PCR fragments were analyzed using CSGE gel electrophoresis, and the fragments with the extra bands were analyzed using DNA sequencing.FINDINGS: The average of von willebrand antigen and VWF activity were found 35.18 and 31.4 unit/deciliter in 23 patients from 6 families, respectively. Mutations were found in 4 families from 6. Argenine 1205 to histidine in 2 families and two new mutations including glysine 19 to arginine in exon 2 and a nucleotide change 2821 guanine to adenine (G>A) in intron 21 splice site in two other families. No mutation was found in two other families.CONCLUSION: This study showed that different kind of mutations causing von willebrand disease in different families.SMB Hashemi SotehN RezaeiA GoodeveBabol University of Medical Sciencesarticlevon willebrand diseasemutation detectionmolecular analysisMedicineRMedicine (General)R5-920ENFAMajallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, Vol 8, Iss 4, Pp 81-89 (2006)
institution	DOAJ
collection	DOAJ
language	EN FA
topic	von willebrand disease mutation detection molecular analysis Medicine R Medicine (General) R5-920
spellingShingle	von willebrand disease mutation detection molecular analysis Medicine R Medicine (General) R5-920 SMB Hashemi Soteh N Rezaei A Goodeve PHENOTYPIC STUDY AND MOLECULA ANALYSIS OF VON WILLEBRAND TYPE 1 PATIENTS
description	BACKGROUND & OBJECTIVE: Von willebrand disease (VWD) is the most common bleeding disorder caused by von willbrand factor (VWF) deficiency and autosomal dominance inheritance pattern. It is divided into three types, one and three (quantitative) and type 2 (qualitative). Type one is known with mild bleeding symptoms in comparison with type 3. The aim of this study was to determine the mutations responsible for the type one VWD.METHODS: DNA was extracted from affected members of the family with type 1 VWD and the von willebrand gene was amplified using 63 different PCR. Then PCR fragments were analyzed using CSGE gel electrophoresis, and the fragments with the extra bands were analyzed using DNA sequencing.FINDINGS: The average of von willebrand antigen and VWF activity were found 35.18 and 31.4 unit/deciliter in 23 patients from 6 families, respectively. Mutations were found in 4 families from 6. Argenine 1205 to histidine in 2 families and two new mutations including glysine 19 to arginine in exon 2 and a nucleotide change 2821 guanine to adenine (G>A) in intron 21 splice site in two other families. No mutation was found in two other families.CONCLUSION: This study showed that different kind of mutations causing von willebrand disease in different families.
format	article
author	SMB Hashemi Soteh N Rezaei A Goodeve
author_facet	SMB Hashemi Soteh N Rezaei A Goodeve
author_sort	SMB Hashemi Soteh
title	PHENOTYPIC STUDY AND MOLECULA ANALYSIS OF VON WILLEBRAND TYPE 1 PATIENTS
title_short	PHENOTYPIC STUDY AND MOLECULA ANALYSIS OF VON WILLEBRAND TYPE 1 PATIENTS
title_full	PHENOTYPIC STUDY AND MOLECULA ANALYSIS OF VON WILLEBRAND TYPE 1 PATIENTS
title_fullStr	PHENOTYPIC STUDY AND MOLECULA ANALYSIS OF VON WILLEBRAND TYPE 1 PATIENTS
title_full_unstemmed	PHENOTYPIC STUDY AND MOLECULA ANALYSIS OF VON WILLEBRAND TYPE 1 PATIENTS
title_sort	phenotypic study and molecula analysis of von willebrand type 1 patients
publisher	Babol University of Medical Sciences
publishDate	2006
url	https://doaj.org/article/3b5fbcef22e649b9841b91c790cb5fbb
work_keys_str_mv	AT smbhashemisoteh phenotypicstudyandmoleculaanalysisofvonwillebrandtype1patients AT nrezaei phenotypicstudyandmoleculaanalysisofvonwillebrandtype1patients AT agoodeve phenotypicstudyandmoleculaanalysisofvonwillebrandtype1patients
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PHENOTYPIC STUDY AND MOLECULA ANALYSIS OF VON WILLEBRAND TYPE 1 PATIENTS

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