Efficient detection of Mediterranean β-thalassemia mutations by multiplex single-nucleotide primer extension.

β-Thalassemias and abnormal hemoglobin variants are among the most common hereditary abnormalities in humans. Molecular characterization of the causative genetic variants is an essential part of the diagnostic process. In geographic areas with high hemoglobinopathy prevalence, such as the Mediterran...

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Autores principales:	Biljana Atanasovska, Georgi Bozhinovski, Dijana Plaseska-Karanfilska, Lyubomira Chakalova
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/9afff0858d054e03bc420bb2952eb373
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spelling	oai:doaj.org-article:9afff0858d054e03bc420bb2952eb3732021-11-18T08:10:51ZEfficient detection of Mediterranean β-thalassemia mutations by multiplex single-nucleotide primer extension.1932-620310.1371/journal.pone.0048167https://doaj.org/article/9afff0858d054e03bc420bb2952eb3732012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23110203/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203β-Thalassemias and abnormal hemoglobin variants are among the most common hereditary abnormalities in humans. Molecular characterization of the causative genetic variants is an essential part of the diagnostic process. In geographic areas with high hemoglobinopathy prevalence, such as the Mediterranean region, a limited number of genetic variants are responsible for the majority of hemoglobinopathy cases. Developing reliable, rapid and cost-effective mutation-specific molecular diagnostic assays targeting particular populations greatly facilitates routine hemoglobinopathy investigations. We developed a one-tube single-nucleotide primer extension assay for the detection of eight common Mediterranean β-thalassemia mutations: Codon 5 (-CT); CCT(Pro)->C-, Codon 6 (-A); GAG(Glu)->G-G, Codon 8 (-AA); AAG(Lys)->-G, IVS-I-1 (G->A), IVS-I-6 (T->C), IVS-I-110 (G->A), Codon 39 (C->T), and IVS-II-745 (C->G), as well as the hemoglobin S variant beta 6(A3) Glu>Val. We validated the new assay using previously genotyped samples obtaining 100% agreement between independent genotyping methods. Our approach, applicable in a range of Mediterranean countries, offers a combination of high accuracy and rapidity exploiting standard techniques and widely available equipment. It can be further adapted to particular populations by including/excluding assayed mutations. We facilitate future modifications by providing detailed information on assay design.Biljana AtanasovskaGeorgi BozhinovskiDijana Plaseska-KaranfilskaLyubomira ChakalovaPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 10, p e48167 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Biljana Atanasovska Georgi Bozhinovski Dijana Plaseska-Karanfilska Lyubomira Chakalova Efficient detection of Mediterranean β-thalassemia mutations by multiplex single-nucleotide primer extension.
description	β-Thalassemias and abnormal hemoglobin variants are among the most common hereditary abnormalities in humans. Molecular characterization of the causative genetic variants is an essential part of the diagnostic process. In geographic areas with high hemoglobinopathy prevalence, such as the Mediterranean region, a limited number of genetic variants are responsible for the majority of hemoglobinopathy cases. Developing reliable, rapid and cost-effective mutation-specific molecular diagnostic assays targeting particular populations greatly facilitates routine hemoglobinopathy investigations. We developed a one-tube single-nucleotide primer extension assay for the detection of eight common Mediterranean β-thalassemia mutations: Codon 5 (-CT); CCT(Pro)->C-, Codon 6 (-A); GAG(Glu)->G-G, Codon 8 (-AA); AAG(Lys)->-G, IVS-I-1 (G->A), IVS-I-6 (T->C), IVS-I-110 (G->A), Codon 39 (C->T), and IVS-II-745 (C->G), as well as the hemoglobin S variant beta 6(A3) Glu>Val. We validated the new assay using previously genotyped samples obtaining 100% agreement between independent genotyping methods. Our approach, applicable in a range of Mediterranean countries, offers a combination of high accuracy and rapidity exploiting standard techniques and widely available equipment. It can be further adapted to particular populations by including/excluding assayed mutations. We facilitate future modifications by providing detailed information on assay design.
format	article
author	Biljana Atanasovska Georgi Bozhinovski Dijana Plaseska-Karanfilska Lyubomira Chakalova
author_facet	Biljana Atanasovska Georgi Bozhinovski Dijana Plaseska-Karanfilska Lyubomira Chakalova
author_sort	Biljana Atanasovska
title	Efficient detection of Mediterranean β-thalassemia mutations by multiplex single-nucleotide primer extension.
title_short	Efficient detection of Mediterranean β-thalassemia mutations by multiplex single-nucleotide primer extension.
title_full	Efficient detection of Mediterranean β-thalassemia mutations by multiplex single-nucleotide primer extension.
title_fullStr	Efficient detection of Mediterranean β-thalassemia mutations by multiplex single-nucleotide primer extension.
title_full_unstemmed	Efficient detection of Mediterranean β-thalassemia mutations by multiplex single-nucleotide primer extension.
title_sort	efficient detection of mediterranean β-thalassemia mutations by multiplex single-nucleotide primer extension.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/9afff0858d054e03bc420bb2952eb373
work_keys_str_mv	AT biljanaatanasovska efficientdetectionofmediterraneanbthalassemiamutationsbymultiplexsinglenucleotideprimerextension AT georgibozhinovski efficientdetectionofmediterraneanbthalassemiamutationsbymultiplexsinglenucleotideprimerextension AT dijanaplaseskakaranfilska efficientdetectionofmediterraneanbthalassemiamutationsbymultiplexsinglenucleotideprimerextension AT lyubomirachakalova efficientdetectionofmediterraneanbthalassemiamutationsbymultiplexsinglenucleotideprimerextension
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Efficient detection of Mediterranean β-thalassemia mutations by multiplex single-nucleotide primer extension.

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