Prenatal Determination of a Variable Number of Tandem Repeats in Intron 40 of the von Willebrand Factor Gene from Maternal Peripheral Blood Using the Polymerase Chain Reaction

2000 ◽  
Vol 50 (3) ◽  
pp. 201-204
Author(s):  
Xingqun Ni ◽  
Jingyuan Guo ◽  
Jiahui Xia ◽  
Luyun Li
Keyword(s):  
Polymerase Chain Reaction ◽  
Tandem Repeats ◽  
Variable Number ◽  
Chain Reaction ◽  
Factor Gene ◽  
Maternal Peripheral Blood ◽  
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.

Tuberculosis in swine co-infected withMycobacterium aviumsubsp.hominissuisandMycobacterium bovisin a cluster from Argentina

2014 ◽  
Vol 143 (5) ◽  
pp. 966-974 ◽  
Author(s):  
S. BARANDIARAN ◽  
A. M. PÉREZ ◽  
A. K. GIOFFRÉ ◽  
M. MARTÍNEZ VIVOT ◽  
A. A. CATALDI ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Null Hypothesis ◽  
Tandem Repeats ◽  
Spatial Clustering ◽  
Variable Number ◽  
Molecular Tools ◽  
Chain Reaction ◽  
Analysis Techniques ◽  
Swine Population ◽  
Polymerase Chain

SUMMARYIn Argentina little is known about the epidemiology of tuberculosis (TB) infection in swine. We characterized the epidemiological dynamics ofMycobacterium aviumcomplex (MAC) infection in a swine population of Argentina using molecular tools and spatial analysis techniques. Isolates (n = 196) obtained from TB-like lesions (n = 200) were characterized by polymerase chain reaction. The isolates were positive to eitherM. bovis(IS6110) (n = 160) orM. avium(IS1245) (n= 16) while the remaining 20 (10·2%) isolates were positive to bothM. bovisandM. avium. The detection of both bacteria together suggests co-infection at the animal level. In addition, MAC-positive isolates (n = 36) were classified asM. aviumsubsp.avium(MAA) (n = 30) andM. aviumsubsp.hominissuis(MAH) (n = 6), which resulted in five genotypes when they were typed using mycobacterial interspersed repetitive unit, variable number of tandem repeats (MIRU-VNTR). One significant (P = 0·017) spatial clustering of genotypes was detected, in which the proportion of MAH isolates was larger than expected under the null hypothesis of even distribution of genotypes. These results show that in Argentina the proportion of TB cases in pigs caused byM. aviumis larger than that reported in earlier studies. The proportion ofM. bovis–MAC co-infections was also higher than in previous reports. These results provide valuable information on the epidemiology of MAC infection in swine in Argentina.

scholarly journals von Willebrand Factor Gene Polymorphism in Preeclampsia Pregnant at Medan, Indonesia

2021 ◽  
Vol 9 (A) ◽  
pp. 1047-1051
Author(s):  
Dewi Indah Sari Siregar ◽  
Muhammad Fidel Ganis Siregar ◽  
Gontar Alamsyah Siregar ◽  
Syah Mirsya Warli
Keyword(s):  
Gene Polymorphism ◽  
Von Willebrand Factor ◽  
Coagulation Factor ◽  
Wild Type ◽  
Chain Reaction ◽  
Factor Gene ◽  
Sequencing Method ◽  
Polymerase Chain ◽  
Von Willebrand ◽  
Willebrand Factor

BACKGROUND: von Willebrand Factor (vWF) is a large glycoprotein mediating hemostasis and thrombosis. The roles of vWF are platelets adhesion to sites of vascular damage and stabilization of coagulation factor VIII. AIM: This study aimed to analyze the polymorphism of the vWF gene on preeclampsia (PE) in pregnancy in Medan, Indonesia. MATERIALS AND METHODS: DNA was amplified using the polymerase chain reaction and was electrophoresed in agarose 2%. Electrophoresis results were detected using Gel Doc 1000 (Biorad, USA). The sequencing method was used to identify polymorphism from vWF gene. RESULTS: From 50 samples of PE patients, the g.93308C>T vWF gene polymorphism was found with the percentage of TT, CT, and CC genotypes as 50%, 42%, and 8%, respectively. CONCLUSION: The c.93308C>T vWF gene polymorphism was found in the genotype percentage of homozygous TT, and heterozygote CT was greater than wild-type CC.

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