Polymerase chain reaction amplification of two polymorphic simple repeat sequences within the von Willebrand factor gene: application to family studies in von Willebrand disease

1992 ◽  
Vol 89 (2) ◽  
Author(s):  
AnthonyM. Cumming ◽  
JohnG. Armstrong ◽  
Kate Pendry ◽  
AileenM Burn ◽  
RichardT. Wensley
Keyword(s):  
Polymerase Chain Reaction ◽  
Polymerase Chain Reaction Amplification ◽  
Von Willebrand Disease ◽  
Chain Reaction ◽  
Factor Gene ◽  
Repeat Sequences ◽  
Reaction Amplification ◽  
Polymerase Chain ◽  
Von Willebrand ◽  
Willebrand Factor

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

Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number tandem repeat region of the von Willebrand factor gene

Blood ◽  
1990 ◽  
Vol 76 (3) ◽  
pp. 555-561 ◽  
Author(s):  
IR Peake ◽  
D Bowen ◽  
P Bignell ◽  
MB Liddell ◽  
JE Sadler ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Prenatal Diagnosis ◽  
Variable Number Tandem Repeat ◽  
Variable Number ◽  
Von Willebrand Disease ◽  
Repeat Region ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Von Willebrand ◽  
Willebrand Factor

Abstract We have previously demonstrated within intron 40 of the von Willebrand factor (vWF) gene a region of ATCT repeats that was shown to vary in length between two different DNA clones from unrelated individuals. The polymerase chain reaction (PCR) was used to examine the variability in length of this variable number tandem repeat (VNTR) in 53 normal individuals, using primers to DNA sequence flanking the repeat region. Overall, eight different length allelic bands were seen. These were individually sequenced and shown to contain from 6 to 14 ATCT repeats (a nine-repeat band was not seen). Seventy-five percent of individuals were shown to be heterozygous for this vWF.VNTR, and family studies showed Mendelian inheritance with allelic frequencies from 1% (vWF.VNTR [8] and vWF.VNTR [14]) to 39% (vWF.VNTR [7]). In the family of a patient with type III severe von Willebrand disease (vWD), vWF.VNTR results mirrored the phenotypic data and results with previously reported intragenic vWF restriction fragment length polymorphisms (RFLP). The patient was shown to be a compound heterozygote. In a family with a child with severe type III vWD, prenatal diagnosis by vWF.VNTR analysis on DNA obtained by chorionic villus sampling at 10 weeks gestation during a subsequent pregnancy indicated a severely affected fetus. This diagnosis was confirmed by fetal blood sampling at 18 weeks.

scholarly journals Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number tandem repeat region of the von Willebrand factor gene

Blood ◽  
1990 ◽  
Vol 76 (3) ◽  
pp. 555-561 ◽  
Author(s):  
IR Peake ◽  
D Bowen ◽  
P Bignell ◽  
MB Liddell ◽  
JE Sadler ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Prenatal Diagnosis ◽  
Variable Number Tandem Repeat ◽  
Variable Number ◽  
Von Willebrand Disease ◽  
Repeat Region ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Von Willebrand ◽  
Willebrand Factor

We have previously demonstrated within intron 40 of the von Willebrand factor (vWF) gene a region of ATCT repeats that was shown to vary in length between two different DNA clones from unrelated individuals. The polymerase chain reaction (PCR) was used to examine the variability in length of this variable number tandem repeat (VNTR) in 53 normal individuals, using primers to DNA sequence flanking the repeat region. Overall, eight different length allelic bands were seen. These were individually sequenced and shown to contain from 6 to 14 ATCT repeats (a nine-repeat band was not seen). Seventy-five percent of individuals were shown to be heterozygous for this vWF.VNTR, and family studies showed Mendelian inheritance with allelic frequencies from 1% (vWF.VNTR [8] and vWF.VNTR [14]) to 39% (vWF.VNTR [7]). In the family of a patient with type III severe von Willebrand disease (vWD), vWF.VNTR results mirrored the phenotypic data and results with previously reported intragenic vWF restriction fragment length polymorphisms (RFLP). The patient was shown to be a compound heterozygote. In a family with a child with severe type III vWD, prenatal diagnosis by vWF.VNTR analysis on DNA obtained by chorionic villus sampling at 10 weeks gestation during a subsequent pregnancy indicated a severely affected fetus. This diagnosis was confirmed by fetal blood sampling at 18 weeks.

Polymerase chain reaction amplification and typing of rotavirus in environmental samples

1995 ◽  
Vol 31 (5-6) ◽  
pp. 371-374 ◽  
Author(s):  
R. Gajardo ◽  
R. M. Pintó ◽  
A. Bosch
Keyword(s):  
Polymerase Chain Reaction ◽  
Environmental Samples ◽  
Polymerase Chain Reaction Amplification ◽  
Rt Pcr ◽  
Chain Reaction ◽  
Pcr Assay ◽  
Group A ◽  
Reaction Amplification ◽  
Stool Specimens ◽  
Polymerase Chain

A reverse transcription polymerase chain reaction (RT-PCR) assay is described that has been developed for the detection and serotyping of group A rotavirus in stool specimens and concentrated and non-concentrated sewage specimens.

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