scholarly journals MTHFRGene C677T Mutation andACEGene I/D Polymorphism in Turkish Patients with Osteoarthritis

2013 ◽  
Vol 34 (1) ◽  
pp. 17-22 ◽  
Author(s):  
Ahmet Inanir ◽  
Serbulent Yigit ◽  
Sengul Tural ◽  
Osman Cecen ◽  
Eren Yildirim
Keyword(s):  
Polymerase Chain Reaction ◽  
Methylenetetrahydrofolate Reductase ◽  
Chain Reaction ◽  
Gene Insertion ◽  
Significant Difference ◽  
Joint Disorder ◽  
Allele Specific ◽  
C677t Mutation ◽  
Polymerase Chain ◽  
Turkish Patients

Osteoarthritis is a degenerative joint disorder resulting in destruction of articular cartilage, osteophyte formation, and subchondral bone sclerosis. In recent years, numerous genetic factors have been identified and implicated in osteoarthritis. The aim of the current study was to examine the influence of methylenetetrahydrofolate reductase (MTHFR) gene C677T mutation and angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) variations on the risk of osteoarthritis.Genomic DNA is obtained from 421 persons (221 patients with osteoarthritis and 200 healthy controls).ACEgene I/D polymorphism genotypes were determined using polymerase chain reaction using I and D allele-specific primers. TheMTHFRC677T mutation was analyzed by polymerase chain reaction (PCR) based restriction fragment length polymorphism (RFLP) methods. We found significant difference between the groups with respect to bothACEandMTHFRgenotype distributions (p< 0.001,p< 0.001 respectively). Our study suggests thatACEgene DD genotype andMTHFRgene CC genotype could be used as genetic markers in osteoarthritis in Turkish study populations.

A simple method for the detection of CYP2C9 polymorphisms: nested allele-specific multiplex polymerase chain reaction

2003 ◽  
Vol 336 (1-2) ◽  
pp. 97-102 ◽  
Author(s):  
Z. Zainuddin ◽  
L.K. Teh ◽  
A.W.M. Suhaimi ◽  
M.Z. Salleh ◽  
R. Ismail
Keyword(s):  
Polymerase Chain Reaction ◽  
Multiplex Polymerase Chain Reaction ◽  
Chain Reaction ◽  
Simple Method ◽  
Allele Specific ◽  
Polymerase Chain

Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis

2021 ◽  
Vol 25 (4) ◽  
pp. 293-301
Author(s):  
Yogik Onky Silvana Wijaya ◽  
Hisahide Nishio ◽  
Emma Tabe Eko Niba ◽  
Tomoyoshi Shiroshita ◽  
Masako Kato ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Melting Peak ◽  
Screening System ◽  
Chain Reaction ◽  
Specific Polymerase Chain Reaction ◽  
Allele Specific ◽  
Polymerase Chain ◽  
Blood Spot

scholarly journals Critical analysis: use of polymerase chain reaction to diagnose leprosy

2016 ◽  
Vol 52 (1) ◽  
pp. 163-169 ◽  
Author(s):  
Flaviane Granero Maltempe ◽  
Vanessa Pietrowski Baldin ◽  
Mariana Aparecida Lopes ◽  
Vera Lúcia Dias Siqueira ◽  
Regiane Bertin de Lima Scodro ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Globin Gene ◽  
Public Health Problem ◽  
Reference Laboratory ◽  
Chain Reaction ◽  
Molecular Biology Technique ◽  
Pcr Inhibitor ◽  
Significant Difference ◽  
Polymerase Chain ◽  
Pcr Techniques

ABSTRACT Leprosy is a neglected tropical disease and an important public health problem, especially in developing countries. It is a chronic infectious disease that is caused by Mycobacterium leprae, which has a predilection for the skin and peripheral nerves. Although it has low sensitivity, slit-skin smear (SSS) remains the conventional auxiliary laboratory technique for the clinical diagnosis of leprosy. Polymerase chain reaction (PCR) is a molecular biology technique that holds promise as a simple and sensitive diagnostic tool. In the present study, the performance of two PCR methods, using different targets, PCR-LP and PCR-P, were compared with SSS with regard to leprosy diagnosis in a reference laboratory. M. leprae DNA was extracted from 106 lymph samples of 40 patients who had clinical suspicion of leprosy. The samples were subjected to both PCR techniques and SSS. Amplification of the human b-globin gene was used as PCR inhibitor control. The specificity of both PCR techniques was 100%, and sensitivity was 0.007 and 0.015 µg/ml for PCR-LP and PCR-P, respectively. No significant difference was found between either the PCR-LP or PCR-P results and SSS results (p > 0.05). Although PCR is not yet a replacement for SSS in the diagnosis of leprosy, this technique may be used as an efficient auxiliary tool for early detection of the disease, especially in endemic regions. This strategy may also be useful in cases in which SSS results are negative (e.g., in paucibacillary patients) and cases in which skin biopsy cannot be performed.

Allele-specific polymerase chain reaction

Methods ◽  
1991 ◽  
Vol 2 (1) ◽  
pp. 42-48 ◽  
Author(s):  
L UGOZZOLI ◽  
R WALLACE
Keyword(s):  
Polymerase Chain Reaction ◽  
Chain Reaction ◽  
Specific Polymerase Chain Reaction ◽  
Allele Specific ◽  
Polymerase Chain

Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis

1991 ◽  
Vol 37 (5) ◽  
pp. 753-755 ◽  
Author(s):  
K J Friedman ◽  
W E Highsmith ◽  
L M Silverman
Keyword(s):  
Cystic Fibrosis ◽  
Polymerase Chain Reaction ◽  
Restriction Enzyme ◽  
Site Directed Mutagenesis ◽  
Directed Mutagenesis ◽  
Chain Reaction ◽  
Allele Specific ◽  
Specific Restriction ◽  
Polymerase Chain

Abstract The polymerase chain reaction (PCR) has been applied in a novel manner to detect the multiple mutations causing cystic fibrosis (CF). PCR-mediated site-directed mutagenesis (PSM) has been applied to create allele-specific restriction enzyme cutting sites for three of the more common mutations. Two other mutations after cutting sites on their own. We discuss the implications for the expedient detection of five different CF-causing mutations.

scholarly journals Rapid Rh D genotyping by polymerase chain reaction-based amplification of DNA

Blood ◽  
1995 ◽  
Vol 85 (10) ◽  
pp. 2975-2980 ◽  
Author(s):  
S Simsek ◽  
BH Faas ◽  
PM Bleeker ◽  
MA Overbeeke ◽  
HT Cuijpers ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Blood Group ◽  
False Positive ◽  
Complete Agreement ◽  
Blood Group System ◽  
Chain Reaction ◽  
Group System ◽  
Allele Specific ◽  
Polymerase Chain ◽  
Rh Blood Group

Rh (rhesus) D is the dominant antigen of the Rh blood group system. Recent advances in characterization of the nucleotide sequence of the cDNA(s) encoding the Rh D polypeptide allow the determination of the Rh D genotype at the DNA level. This can be of help in cases in which red blood cells are not available for phenotyping, eg, when in concerns a fetus. We have tested three independent DNA typing methods based on the polymerase chain reaction (PCR) for their suitability to determine the Rh D genotype. DNA derived from peripheral blood mononuclear cells from 234 Rh-phenotyped healthy donors (178 Rh D positive and 56 Rh D negative) was used in the PCR. The Rh D genotypes, as determined with a method based on the allele-specific amplification of the 3′ noncoding region of the Rh D gene described by Bennett et al (N Engl J Med 329:607, 1993), were not concordant with the serologically established phenotypes in all cases. We have encountered 5 discrepant results, ie, 3 false-positive and 2 false-negative (a father and child). Rh D genotyping with the second method was performed by PCR amplification of exon 7 of the D gene with allele-specific primers. In all donors phenotyped as D positive tested so far (n = 178), the results of molecular genotyping with this method were concordant with the serologic results, whereas a false-positive result was obtained in one of the D-negative donors (also false-positive in the first method). Complete agreement was found between genotypes determined in the third method, based on a 600-bp deletion in intron 4 of the Rh D gene described by Arce et al (Blood 82:651, 1993), and serologically determined phenotypes. The Rh blood group system is complex, and unknown polymorphisms at the DNA level are expected to exist. Therefore, although genotypes determined by the method of Arce et al were in agreement with serotypes, it cannot yet be regarded as the golden standard. More experience with this or other methods is still needed.

Study of the HLA-DPβ1 Locus by the Polymerase Chain Reaction Technique in Patients with Hodgkin's Disease

1993 ◽  
Vol 79 (2) ◽  
pp. 133-136 ◽  
Author(s):  
Guseppe Pellegris ◽  
Claudia Lombardo ◽  
Annelisa Cantoni ◽  
Liliana Devizzi ◽  
Monica Balzarotti
Keyword(s):  
Polymerase Chain Reaction ◽  
Hodgkin's Disease ◽  
Hodgkin’S Disease ◽  
Polymerase Chain Reaction Method ◽  
Healthy Controls ◽  
Chain Reaction ◽  
Reaction Method ◽  
Significant Difference ◽  
Polymerase Chain

Background A number of reports have studied associations between Hodgkin's disease and HLA. Some of them established correlation between several antigens and Hodgkin's disease, and others found no correlations. Methods The HLA DP locus was determined by the polymerase chain reaction method in 31 Hodgkin's disease patients and 58 healthy controls. Results No significant difference between patients and controls was noted. Conclusions Further investigations are needed to confirm the hypothesis of a possible role of the HLA complex as one of the factors involved in Hodgkin's disease.

Two Novel Nonradioactive Polymerase Chain Reaction-Based Assays of Dried Blood Spots, Genomic DNA, or Whole Cells for Fast, Reliable Detection of Z and S Mutations in the α1-Antitrypsin Gene

1992 ◽  
Vol 38 (10) ◽  
pp. 2100-2107 ◽  
Author(s):  
B S Andresen ◽  
I Knudsen ◽  
P K Jensen ◽  
K Rasmussen ◽  
N Gregersen
Keyword(s):  
Polymerase Chain Reaction ◽  
Genomic Dna ◽  
Dried Blood Spots ◽  
Chain Reaction ◽  
Tissue Samples ◽  
Whole Cells ◽  
Blood Spots ◽  
Allele Specific ◽  
Polymerase Chain ◽  
Alpha 1 Antitrypsin

Abstract Two new nonradioactive polymerase chain reaction (PCR)-based assays for the Z and S mutations in the alpha 1-antitrypsin gene are presented. The assays take advantage of PCR-mediated mutagenesis, creating new diagnostic restriction enzyme sites for unambiguous discrimination between test samples from individuals who are normal, heterozygous, or homozygous for the mutations. We show that the two assays can be performed with purified genomic DNA as well as with boiled blood spots. The new assays were validated by parallel testing with a technique in which PCR is combined with allele-specific oligonucleotide (ASO) probes. In all cases tested the results obtained by the different techniques were in accordance. The new assays can be used for prenatal diagnostics and can be performed directly with boiled tissue samples. Because the new assays are easy to perform and reliable, we conclude that they are well suited for routine diagnosis.

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