Development of a High-Resolution Melting Approach for Scanning Beta Globin Gene Point Mutations in the Greek and Other Mediterranean Populations
Publication Date
June 28, 2016
Journal
PLOS ONE
Authors
Christos Chassanidis, Effrossyni Boutou, Ersi Voskaridou & Angeliki Balassopoulou
Volume
11
Issue
6
Pages
e0157393
DOI
https://dx.plos.org/10.1371/journal.pone.0157393
Publisher URL
http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0157393
Scopus
84977544453
Mendeley
http://www.mendeley.com/research/development-highresolution-melting-approach-scanning-beta-globin-gene-point-mutations-greek-other-me
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Mendeley | Further Information

{"title"=>"Development of a high-resolution melting approach for scanning beta globin gene point mutations in the Greek and other mediterranean populations", "type"=>"journal", "authors"=>[{"first_name"=>"Christos", "last_name"=>"Chassanidis", "scopus_author_id"=>"16686540100"}, {"first_name"=>"Effrossyni", "last_name"=>"Boutou", "scopus_author_id"=>"25622451400"}, {"first_name"=>"Ersi", "last_name"=>"Voskaridou", "scopus_author_id"=>"6701683419"}, {"first_name"=>"Angeliki", "last_name"=>"Balassopoulou", "scopus_author_id"=>"6507515439"}], "year"=>2016, "source"=>"PLoS ONE", "identifiers"=>{"issn"=>"19326203", "doi"=>"10.1371/journal.pone.0157393", "sgr"=>"84977544453", "scopus"=>"2-s2.0-84977544453", "pui"=>"611071306"}, "id"=>"4ae443e0-8662-349d-9d44-ff806991127e", "abstract"=>"Beta-thalassaemia is one of the most common autosomal recessive disorders worldwide. The disease’s high incidence, which is observed in the broader Mediterranean area has led to the establishment ofmolecular diagnostics’ assays to prevent affected births. Therefore, the development of a reliable, cost-effective and rapid scanning method for β globin gene point mutations, easily adapted to a routine laboratory, is absolutely essential. Here, we describe, for the first time, the development of a High-Resolution Melting Analysis (HRMA) approach, suitable for scanning the particularly heterogeneous beta globin gene mutations present in the Greek population, and thus adaptable to the Mediterranean and other areas where these mutations have been identified. Within this context, β globin gene regions con- taining mutations frequently identified in the Greek population were divided in ten overlap- ping amplicons. Our reactions’ setup allowed for the simultaneous amplification of multiple primer sets and partial multiplexing, thereby resulting in significant reduction of the experi- mental time. DNA samples from β-thalassaemia patients/carriers with defined genotypes were tested. Distinct genotypes displayed distinguishable melting curves, enabling accu- rate detection of mutations. The described HRMAcan be adapted to a high-throughput level. It represents a rapid, simple, cost-effective, reliable, highly feasible and sensitive method for β-thalassaemia gene scanning. Introduction", "link"=>"http://www.mendeley.com/research/development-highresolution-melting-approach-scanning-beta-globin-gene-point-mutations-greek-other-me", "reader_count"=>5, "reader_count_by_academic_status"=>{"Student > Doctoral Student"=>1, "Student > Master"=>2, "Other"=>2}, "reader_count_by_user_role"=>{"Student > Doctoral Student"=>1, "Student > Master"=>2, "Other"=>2}, "reader_count_by_subject_area"=>{"Medicine and Dentistry"=>2, "Pharmacology, Toxicology and Pharmaceutical Science"=>1, "Computer Science"=>1, "Biochemistry, Genetics and Molecular Biology"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>2}, "Computer Science"=>{"Computer Science"=>1}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>1}, "Pharmacology, Toxicology and Pharmaceutical Science"=>{"Pharmacology, Toxicology and Pharmaceutical Science"=>1}}, "group_count"=>0}

Scopus | Further Information

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