Otimização de metodologia PCR-SSP para identificação de polimorfismos genéticos de TNF e IL2

Viel, Dangelo O.; Sell, Ana Maria; Tsuneto, Luiza Tamie; Visentainer, Jeane Eliete Laguila

doi:10.1590/s1516-84842009005000055

Cited by 4 publications

(3 citation statements)

References 34 publications

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“…Thus, any difference in the gene frequency of these cytokines in different populations may have clinical relevance and be important to obtain more specific genetic markers for diagnosis and prognosis (47,48) .…”

Section: Factors Predisposing Patients To the Development Of Factor Vmentioning

confidence: 99%

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Importance of immune response genes in hemophilia A

Alencar¹,

Macedo²,

Barros³

et al. 2013

Revista Brasileira De Hematologia E Hemoterapia

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Hemophilia A is a disease caused by a deficiency of coagulation factor VIII resulting from genetic inheritance linked to chromosome X. One treatment option is the administration of plasma or recombinant FVIII. However, some patients develop inhibitors or antibodies against this factor. Inhibitors are alloantibodies that bind to the epitope of factor VIII causing it to be recognized by the immune system as a foreign peptide. This is the most serious complication in hemophilia patients in respect to replacement therapy. Some studies have suggested that genetic factors influence the development of factor VIII inhibitors such as ethnicity, family history, mutations in the factor VIII gene and in genes of the immune system. The aim of this study was to conduct a literature review to assess the influence of genetic factors of immune response genes, especially genes of the major histocompatibility complex and cytokines, which may be related to the development of factor VIII inhibitors in hemophilia A patients. Understanding these risk factors will help to determine future differential treatment in the control and prevention of the development of inhibitors.

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Section: Factors Predisposing Patients To the Development Of Factor Vmentioning

confidence: 99%

“…Most of the SNPs studied are in promoter regions and in the exon itself, or in microsatellites of intron regions (48) .…”

Section: Factors Predisposing Patients To the Development Of Factor Vmentioning

confidence: 99%

Importance of immune response genes in hemophilia A

Alencar¹,

Macedo²,

Barros³

et al. 2013

Revista Brasileira De Hematologia E Hemoterapia

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“…The PCR-SSP uses specific primers to detect the nucleotide sequence of the polymorphic alleles 16, 17. The PCR-RFLP is characterized by the cleaving of the amplicons by specific endonucleases generating restriction profiles.…”

Section: Introductionmentioning

confidence: 99%

Methods for blood group antigens detection: cost-effectiveness analysis of phenotyping and genotyping

Quirino

Colli

Macedo

et al. 2019

Hematology, Transfusion and Cell Therapy

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BackgroundAlloimmunization is a major problem in transfusion practice due to the clinical complications of the patients and the difficulty of choosing a unit of compatible blood product. Serological methods are widely used in blood banks, but they not always determine the phenotype. Thus, genotyping is an important complement to the serology tool as it allows one to predict the phenotype from deoxyribonucleic acid (DNA) with high accuracy.ObjectiveTo compare the centrifugation gel, microarray, Restriction Fragment Length Polymorphismone PCR (PCR-RFLP) and Sequence-Specific Primer PCR (PCR-SSP) techniques, in terms of cost, reaction time and reliability of the results.MethodsThe RHCE, Kidd, Kell and Duffy blood group systems were chosen to determine the approximate cost of each technique, considering the reagents used in both methods and considering only one sample. The time required for the development of each reaction was obtained at the Maringa Regional Blood Center and Immunogenetics Laboratory at the State University of Maringa. Data from Microarray reactions were obtained at the Campinas Blood Center. The results of phenotyping and genotyping of the 16 samples were compiled in a spreadsheet and compared.ResultsThe PCR-SSP was more economical compared to other methods, and the serological method was faster than the molecular methods. However, all methods proved to be effective and safe in the detection of erythrocyte antigens.ConclusionAnalyzing the advantages and limitations of the molecular and serological methods tested in this study, we note that both are important and complementary. However, the choice of a methodology depends on the reality and needs of each health service.

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Association of Cytokines in Individuals Sensitive and Insensitive to Dust Mites in a Brazilian Population

2014

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IntroductionAllergic reaction to dust mites is a relatively common condition among children, triggering cutaneous and respiratory responses that have a great impact on the health of this population. Anaphylactic hypersensitivity is characterized by an exacerbated response involving the production of regulatory cytokines responsible for stimulating the production of IgE antibodies.ObjectiveTo investigate an association of variants in cytokine genes (IL1A −889, IL1B −511, +3962, IL1R 1970, IL1RA 11100, IL4RA +1902, IL12 −1188, IFNG +874, TGFB1 codon 10, codon 25, TNFA −308, −238, IL2 −330, +166, IL4 −1098, −590, −33, IL6 −174, nt565, and IL10 −1082, −819, −592) between patients sensitive to dust mites and a control group.MethodsA total of 254 patients were grouped as atopic and non-atopic according to sensitivity as evaluated by the Prick Test and to cytokine genotyping by the polymerase chain reaction-sequence specific primers (PCR-SSP) method using the Cytokine Genotyping Kit.ResultsA comparison between individuals allergic to Dermatophagoides farinae, Dermatophagoides pteronyssinus, and Blomia tropicalis and a non-atopic control group showed significant differences between allele and genotype frequencies in the regulatory regions of cytokine genes, with important evidence for IL4 −590 in T/C (10.2% vs. 43.1%, odd ratio [OR] = 0.15, p = 5.2 10−8, pc = 0.0000011, and 95% confidence interval [95%CI] = 0.07–0.32) and T/T genotypes (42.9% vs. 13.8%, OR = 4.69, p = 2.5 10−6, pc = 0.000055, and 95%CI = 2.42–9.09). Other associations were observed in the pro-inflammatory cytokines IL1A −889 (T/T, C, and T) and IL2 −330 (G/T and T/T) and the anti-inflammatory cytokines IL4RA +1902 (A and G), IL4 −590 (T/C, T/T, C, and T), and IL10 −592 (A/A, C/A, A, and C).ConclusionOur results suggest a possible association between single nucleotide polymorphisms (SNPs) in cytokine genes and hypersensitivity to dust mites.

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Otimização de metodologia PCR-SSP para identificação de polimorfismos genéticos de TNF e IL2

Cited by 4 publications

References 34 publications

Importance of immune response genes in hemophilia A

Importance of immune response genes in hemophilia A

Methods for blood group antigens detection: cost-effectiveness analysis of phenotyping and genotyping

Association of Cytokines in Individuals Sensitive and Insensitive to Dust Mites in a Brazilian Population

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