Genetic screening of newborns in Baku for hereditary hemoglobinopathies

2020 ◽  
pp. 56-60
Author(s):  
М.Ш. Бабаев ◽  
К.А. Алиева ◽  
Р.Ф. Мамедова
Keyword(s):  
High Temperature ◽  
Molecular Diagnostics ◽  
Genetic Screening ◽  
Blood Diseases ◽  
Allele Specific ◽  
Abnormal Hemoglobin ◽  
Specific Amplification

Наследственные гемоглобинопатии, входят в группу заболеваний крови, называемых гемолитическими анемиями. В общем случае гемоглобинопатии развиваются из-за синтеза аномального гемоглобина. Гемолитические анемии встречаются примерно у 12% населения Земного шара. Данная статья посвящена результатам генетического скрининга новорожденных г. Баку с целью исследования частоты гемоглобинопатий. Обследованы 267 новорожденных, 143 мальчика и 124 девочки. Исследования проводились в 2018-2019 гг. методом изоэлектрофокусирования. В статье также изложены результаты молекулярной диагностики β-талассемии у новорожденных методом высокотемпературной аллель-специфической амплификации. По данным проведенного исследования наследственных гемоглобинопатий в сыворотке крови новорожденных гор. Баку установлено наличие структурно-аномальных гемоглобинов S и D и патологических аллелей генов α- и β-талассемий. Идентифицированы типы мутаций β-талассемий. Полученные результаты генетического скрининга позволят своевременно проводить лечение больных детей до проявления клиники заболевания. Hereditary hemoglobinopathies are part of a group of blood diseases called hemolytic anemias. In general, hemoglobinopathy is the synthesis of abnormal hemoglobin. Hemolytic anemias occur in approximately 12% of the world’s population. This article is devoted to the results of genetic screening among newborns in Baku in order to study the frequency of hemoglobinopathies. The study involved 267 newborns. Among them are 143 boys and 124 girls. The studies were carried out in 2018-2019. To determine hemoglobinopathies among newborns, we used the method of iso-electrofocusing. The article also details the results of molecular diagnostics of the β-thalassemia gene in newborns by high-temperature allele-specific amplification. In Baku, the presence of pathological genes of α- and β-thalassemias and structurally abnormal hemoglobins S and D was established. Types of β-thalassemia mutations have been identified.

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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