allele discrimination
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2021 ◽  
Author(s):  
Nathalie K Zgheib ◽  
Habib El-Khoury ◽  
Dimitri Maamari ◽  
Maya Basbous ◽  
Raya Saab ◽  
...  

Aim: To evaluate the association between candidate genetic polymorphisms and glucocorticoid-induced osteonecrosis in Arab children treated for acute lymphoblastic leukemia. Methods: A total of 189 children treated for acute lymphoblastic leukemia were genotyped for four SNPs with allele discrimination assays. The incidence and timing of radiologically confirmed symptomatic grade 4 osteonecrosis were classified based on the Ponte di Legno toxicity working group consensus definition. Results: Thirteen children developed grade 4 osteonecrosis (6.8%), of whom 12 received the intermediate/high-risk treatment protocol. GRIN3A variant allele carriers had to stop dexamethasone therapy earlier resulting in significantly shorter duration of dexamethasone treatment (mean [95% CI]: 75.17 [64.28–86.06] vs 85.90 [81.22–90.58] weeks; p = 0.054) and lower cumulative dose (mean [95% CI]: 1118.11 [954.94–1281.29] vs 1341.14 [1264.17–1418.11] mg/m2; p = 0.011). Conclusion: This is the first pharmacogenomics evaluation of the association between GRIN3A variants and glucocorticoid-induced osteonecrosis in Arab children.





Author(s):  
Valeria Cristina Sandrim ◽  
Marcelo Rizzatti Luizon ◽  
Eliane Pilan ◽  
Mayara Caldeira-Dias ◽  
Fernanda Borchers Coeli-Lacchini ◽  
...  

Abstract Objective We examined the interaction of polymorphisms in the genes heme oxygenase-1 (HMOX1) and nitric oxide synthase (NOS3) in patients with preeclampsia (PE) as well as the responsiveness to methyldopa and to total antihypertensive therapy. Methods The genes HMOX1 (rs2071746, A/T) and NOS3 (rs1799983, G/T) were genotyped using TaqMan allele discrimination assays (Applied Biosystems, Foster City, CA, USA ), and the levels of enzyme heme oxygenase-1 (HO-1) were measured using enzyme-linked immunosorbent assay (ELISA). Results We found interactions between genotypes of the HMOX-1 and NOS3 genes and responsiveness to methyldopa and that PE genotyped as AT presents lower levels of protein HO-1 compared with AA. Conclusion We found interactions between the HMOX-1 and NOS3 genes and responsiveness to methyldopa and that the HMOX1 polymorphism affects the levels of enzyme HO-1 in responsiveness to methyldopa and to total antihypertensive therapy. These data suggest impact of the combination of these two polymorphisms on antihypertensive responsiveness in PE.



2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Jean-Benoît Le Luduec ◽  
Anupa Kudva ◽  
Jeanette E. Boudreau ◽  
Katharine C. Hsu

A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.



2018 ◽  
Vol 8 (1) ◽  
Author(s):  
Jean-Benoît Le Luduec ◽  
Anupa Kudva ◽  
Jeanette E. Boudreau ◽  
Katharine C. Hsu




2014 ◽  
Vol 42 (15) ◽  
pp. e120-e120 ◽  
Author(s):  
Michelle Byrom ◽  
Sanchita Bhadra ◽  
Yu Sherry Jiang ◽  
Andrew D. Ellington

Abstract The ability to detect and monitor single nucleotide polymorphisms (SNPs) in biological samples is an enabling research and clinical tool. We have developed a surprising, inexpensive primer design method that provides exquisite discrimination between SNPs. The field of DNA computation is largely reliant on using so-called toeholds to initiate strand displacement reactions, leading to the execution of kinetically trapped circuits. We have now similarly found that the short toehold sequence to a target of interest can initiate both strand displacement within the hairpin and extension of the primer by a polymerase, both of which will further stabilize the primer:template complex. However, if the short toehold does not bind, neither of these events can readily occur and thus amplification should not occur. Toehold hairpin primers were used to detect drug resistance alleles in two genes, rpoB and katG, in the Mycobacterium tuberculosis genome, and ten alleles in the Escherichia coli genome. During real-time PCR, the primers discriminate between mismatched templates with Cq delays that are frequently so large that the presence or absence of mismatches is essentially a ‘yes/no’ answer.



ChemBioChem ◽  
2012 ◽  
Vol 13 (10) ◽  
pp. 1409-1412 ◽  
Author(s):  
Fumie Takei ◽  
Masako Igarashi ◽  
Yoshimi Oka ◽  
Yusuke Koga ◽  
Kazuhiko Nakatani


2011 ◽  
Vol 38 (12) ◽  
pp. 2598-2601 ◽  
Author(s):  
F. DAVID CARMONA ◽  
AURORA SERRANO ◽  
LUIS RODRÍGUEZ-RODRÍGUEZ ◽  
SANTOS CASTAÑEDA ◽  
JOSÉ A. MIRANDA-FILLOY ◽  
...  

Objective.To investigate whether a functional integrin alpha M (ITGAM) variant is involved in susceptibility to and clinical manifestations of giant cell arteritis (GCA).Methods.A Spanish cohort of 437 white patients with biopsy-proven GCA and 1388 healthy controls were genotyped using the TaqMan allele discrimination technology.Results.No association was observed between ITGAM rs1143679 and GCA (p = 0.80, OR 0.97). Similarly, subphenotype analyses did not yield significant differences between the case subgroups and the control set or between GCA patients with or without the main specific features of GCA.Conclusion.Our results suggest that the ITGAM rs1143679 variant does not play an important role in the pathophysiology of GCA.



2011 ◽  
Vol 72 ◽  
pp. S145
Author(s):  
Cindy H. Park ◽  
Kejal Ghiwala ◽  
Sharon Austria ◽  
Sue Tiongko ◽  
Laura Baraian ◽  
...  


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