Von Willebrand factor 1 and factor 2 alleles (intron 40) are suitable markers for carrier detection in von Willebrand disease families in the Indian population

Sucheta Trasi, Dipika Mohanty, Anil Pathare, Shrimati Shetty, Kanjaksha Ghosh

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

The efficacy of the two von Willebrand factor (vWF) intron 40 variable number of tandem repeat (VNTR) markers, vWF1 and vWF2, in the genetic diagnosis of von Willebrand disease (vWD) in Indian patients was studied. Three hundred and sixty-five unrelated normal individuals and 100 vWD patients (type 1: 18; type 2: 21; type 3: 61) were analyzed for the two vWF intron 40 VNTR markers. Polymerase chain reaction of the two markers vWF1 and vWF2 was done using specific primers followed by electrophoresis on 10% polyacrylamide gel. VNTR analysis revealed the presence of VNTR9 and VNTR15 along with the eight alleles VNTR6 to VNTR14 in the vWF1 marker. Furthermore, apart from the six alleles, VNTR1 to VNTR6 of the vWF2 marker, two new alleles, VNTR7 and VNTR8, were also found. The heterozygosity rates were 75 and 74% for vWF1 and vWF2, respectively. Overall, the heterozygosity rate, i.e. when both vWF1 and vWF2 were considered in combination, was 81%. These data were successfully applied for the detection of carriers in 10 severe type 3 vWD families. The high heterozygosity of the two vWF intron 40 VNTR markers and the simplicity of the technique without much cost being involved suggest the practical feasibility of this technique in developing countries like India.

Original languageEnglish
Pages (from-to)64-67
Number of pages4
JournalActa Haematologica
Volume115
Issue number1-2
DOIs
Publication statusPublished - Jan 2006

Fingerprint

von Willebrand Diseases
Minisatellite Repeats
von Willebrand Factor
Introns
Alleles
Population
Type 3 Von Willebrand's Disease
Type 1 von Willebrand Disease
Developing Countries
Electrophoresis
India
Costs and Cost Analysis
Polymerase Chain Reaction

Keywords

  • Carrier detection
  • Intron 40
  • Polymorphic marker
  • Von Willebrand factor gene

ASJC Scopus subject areas

  • Hematology

Cite this

Von Willebrand factor 1 and factor 2 alleles (intron 40) are suitable markers for carrier detection in von Willebrand disease families in the Indian population. / Trasi, Sucheta; Mohanty, Dipika; Pathare, Anil; Shetty, Shrimati; Ghosh, Kanjaksha.

In: Acta Haematologica, Vol. 115, No. 1-2, 01.2006, p. 64-67.

Research output: Contribution to journalArticle

@article{551cd19f298b4cbc8856d8022f0c0c5e,
title = "Von Willebrand factor 1 and factor 2 alleles (intron 40) are suitable markers for carrier detection in von Willebrand disease families in the Indian population",
abstract = "The efficacy of the two von Willebrand factor (vWF) intron 40 variable number of tandem repeat (VNTR) markers, vWF1 and vWF2, in the genetic diagnosis of von Willebrand disease (vWD) in Indian patients was studied. Three hundred and sixty-five unrelated normal individuals and 100 vWD patients (type 1: 18; type 2: 21; type 3: 61) were analyzed for the two vWF intron 40 VNTR markers. Polymerase chain reaction of the two markers vWF1 and vWF2 was done using specific primers followed by electrophoresis on 10{\%} polyacrylamide gel. VNTR analysis revealed the presence of VNTR9 and VNTR15 along with the eight alleles VNTR6 to VNTR14 in the vWF1 marker. Furthermore, apart from the six alleles, VNTR1 to VNTR6 of the vWF2 marker, two new alleles, VNTR7 and VNTR8, were also found. The heterozygosity rates were 75 and 74{\%} for vWF1 and vWF2, respectively. Overall, the heterozygosity rate, i.e. when both vWF1 and vWF2 were considered in combination, was 81{\%}. These data were successfully applied for the detection of carriers in 10 severe type 3 vWD families. The high heterozygosity of the two vWF intron 40 VNTR markers and the simplicity of the technique without much cost being involved suggest the practical feasibility of this technique in developing countries like India.",
keywords = "Carrier detection, Intron 40, Polymorphic marker, Von Willebrand factor gene",
author = "Sucheta Trasi and Dipika Mohanty and Anil Pathare and Shrimati Shetty and Kanjaksha Ghosh",
year = "2006",
month = "1",
doi = "10.1159/000089468",
language = "English",
volume = "115",
pages = "64--67",
journal = "Acta Haematologica",
issn = "0001-5792",
publisher = "S. Karger AG",
number = "1-2",

}

TY - JOUR

T1 - Von Willebrand factor 1 and factor 2 alleles (intron 40) are suitable markers for carrier detection in von Willebrand disease families in the Indian population

AU - Trasi, Sucheta

AU - Mohanty, Dipika

AU - Pathare, Anil

AU - Shetty, Shrimati

AU - Ghosh, Kanjaksha

PY - 2006/1

Y1 - 2006/1

N2 - The efficacy of the two von Willebrand factor (vWF) intron 40 variable number of tandem repeat (VNTR) markers, vWF1 and vWF2, in the genetic diagnosis of von Willebrand disease (vWD) in Indian patients was studied. Three hundred and sixty-five unrelated normal individuals and 100 vWD patients (type 1: 18; type 2: 21; type 3: 61) were analyzed for the two vWF intron 40 VNTR markers. Polymerase chain reaction of the two markers vWF1 and vWF2 was done using specific primers followed by electrophoresis on 10% polyacrylamide gel. VNTR analysis revealed the presence of VNTR9 and VNTR15 along with the eight alleles VNTR6 to VNTR14 in the vWF1 marker. Furthermore, apart from the six alleles, VNTR1 to VNTR6 of the vWF2 marker, two new alleles, VNTR7 and VNTR8, were also found. The heterozygosity rates were 75 and 74% for vWF1 and vWF2, respectively. Overall, the heterozygosity rate, i.e. when both vWF1 and vWF2 were considered in combination, was 81%. These data were successfully applied for the detection of carriers in 10 severe type 3 vWD families. The high heterozygosity of the two vWF intron 40 VNTR markers and the simplicity of the technique without much cost being involved suggest the practical feasibility of this technique in developing countries like India.

AB - The efficacy of the two von Willebrand factor (vWF) intron 40 variable number of tandem repeat (VNTR) markers, vWF1 and vWF2, in the genetic diagnosis of von Willebrand disease (vWD) in Indian patients was studied. Three hundred and sixty-five unrelated normal individuals and 100 vWD patients (type 1: 18; type 2: 21; type 3: 61) were analyzed for the two vWF intron 40 VNTR markers. Polymerase chain reaction of the two markers vWF1 and vWF2 was done using specific primers followed by electrophoresis on 10% polyacrylamide gel. VNTR analysis revealed the presence of VNTR9 and VNTR15 along with the eight alleles VNTR6 to VNTR14 in the vWF1 marker. Furthermore, apart from the six alleles, VNTR1 to VNTR6 of the vWF2 marker, two new alleles, VNTR7 and VNTR8, were also found. The heterozygosity rates were 75 and 74% for vWF1 and vWF2, respectively. Overall, the heterozygosity rate, i.e. when both vWF1 and vWF2 were considered in combination, was 81%. These data were successfully applied for the detection of carriers in 10 severe type 3 vWD families. The high heterozygosity of the two vWF intron 40 VNTR markers and the simplicity of the technique without much cost being involved suggest the practical feasibility of this technique in developing countries like India.

KW - Carrier detection

KW - Intron 40

KW - Polymorphic marker

KW - Von Willebrand factor gene

UR - http://www.scopus.com/inward/record.url?scp=31144442402&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=31144442402&partnerID=8YFLogxK

U2 - 10.1159/000089468

DO - 10.1159/000089468

M3 - Article

VL - 115

SP - 64

EP - 67

JO - Acta Haematologica

JF - Acta Haematologica

SN - 0001-5792

IS - 1-2

ER -