scholarly journals Primer design for SNP genotyping based on allele-specific amplification—Application to organ transplantation pharmacogenomics

2017 ◽  
Vol 136 ◽  
pp. 14-21 ◽  
Author(s):  
Luis A. Tortajada-Genaro ◽  
Rosa Puchades ◽  
Ángel Maquieira
Keyword(s):  
Organ Transplantation ◽  
Primer Design ◽  
Snp Genotyping ◽  
Allele Specific ◽  
Specific Amplification

Simple and Rapid Detection of Factor V Leiden by Allele-specific PCR Amplification

1996 ◽  
Vol 75 (05) ◽  
pp. 757-759 ◽  
Author(s):  
Rainer Blasczyk ◽  
Markus Ritter ◽  
Christian Thiede ◽  
Jenny Wehling ◽  
Günter Hintz ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Pcr Amplification ◽  
Factor V ◽  
Specific Pcr ◽  
Pcr Rflp ◽  
Allele Specific ◽  
Specific Amplification ◽  
Allele Specific Pcr

SummaryResistance to activated protein C is the most common hereditary cause for thrombosis and significantly linked to factor V Leiden. In this study, primers were designed to identify the factor V mutation by allele-specific PCR amplification. 126 patients with thromboembolic events were analysed using this technique, PCR-RFLP and direct sequencing. The concordance between these techniques was 100%. In 27 patients a heterozygous factor VGln506 mutation was detected, whereas one patient with recurrent thromboembolism was homozygous for the point mutation. Due to its time- and cost-saving features allele-specific amplification should be considered for screening of factor VGln506.

scholarly journals Detection of rare point mutation via allele-specific amplification in emulsion PCR

BMB Reports ◽  
2013 ◽  
Vol 46 (5) ◽  
pp. 270-275 ◽  
Author(s):  
Changming Cheng ◽  
Yin Zhou ◽  
Chao Yang ◽  
Juan Chen ◽  
Jie Wang ◽  
...  
Keyword(s):  
Point Mutation ◽  
Emulsion Pcr ◽  
Allele Specific ◽  
Specific Amplification

scholarly journals Epidermal Growth Factor rs4444903 A>G Gene Polymorphism Association with Chronic Hepatitis B Liver Disease Progression among Egyptian Children: A Multicenter Study

2021 ◽  
Vol 11 (1) ◽  
pp. 63-68
Author(s):  
Amal A. Mohamed ◽  
Gehan L.A. Hakeem ◽  
Gihan M. Babrs ◽  
Laila E. Abolfotoh ◽  
Nageh M. Shehata ◽  
...  
Keyword(s):  
Chronic Hepatitis ◽  
Hepatitis B ◽  
Chronic Hepatitis B ◽  
Genotypic Frequency ◽  
Liver Disease Progression ◽  
Egyptian Children ◽  
Chronic Hepatitis B Virus ◽  
Genes Encoding ◽  
Allele Specific ◽  
Specific Amplification

Background: Polymorphisms of genes encoding the pro-inflammatory and anti-inflammatory cytokines can affect the clinical presentation of the infection. We aimed to assess the role of EGF gene single-nucleotide polymorphism in the outcome of chronic hepatitis B virus (HBV) infection in children. Methods: One hundred HBV-infected children and 75 healthy matched controls were enrolled in this prospective study. Patients included 18 chronic inactive and 82 chronic active carriers. EGF rs4444903 A>G genotypes were determined using allele-specific amplification. Results: Significant differences regarding EGF genotypic frequency (p=0.001) in patients compared to controls (p=0.001). Eighteen percent were inactive, and 82% were active carriers. AA, AG and GG genotypic frequency were 66.7%, 33.3%, 0% and were 3.7%, 37.8% and 58.5% in the inactive and active carriers, respectively, with significant differences regarding AA, AG, GG genotypic frequency (p=0.001 for all). EGF AA, AG, GG genotypes frequency were 1.9%, 33.3%, and 64.8%, respectively, with significant differences between cirrhotic and non-cirrhotic patients regarding AA, AG, GG genotypic frequency (p=0.001 for all). Conclusion: Increased G allele frequency in EGF rs4444903 A > G polymorphism in HBV- Egyptian children is associated with worse outcomes.

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