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Genetic Background Studies of Eight Common Beta Thalassemia Mutations in Thailand Using β-Globin Gene Haplotype and Phylogenetic Analysis

Single nucleotide polymorphisms are informative for haplotype analysis associated with genetic background and clinical linkage studies of β-thalassemia mutations. Hence, the aim of this study was to investigate five polymorphisms (codon 2 (C/T), IVS II-16 (C/G), IVS II-74 (G/T), IVS II-81 (C/T) and...

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Autores principales: Karnpean, Rossarin, Tepakhan, Wanicha, Suankul, Prame, Thingphom, Sitthikorn, Poonsawat, Apichaya, Thanunchaikunlanun, Naritthakarn, Ruangsanngamsiri, Rotsakorn, Jomoui, Wittaya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407504/
https://www.ncbi.nlm.nih.gov/pubmed/36011295
http://dx.doi.org/10.3390/genes13081384
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author Karnpean, Rossarin
Tepakhan, Wanicha
Suankul, Prame
Thingphom, Sitthikorn
Poonsawat, Apichaya
Thanunchaikunlanun, Naritthakarn
Ruangsanngamsiri, Rotsakorn
Jomoui, Wittaya
author_facet Karnpean, Rossarin
Tepakhan, Wanicha
Suankul, Prame
Thingphom, Sitthikorn
Poonsawat, Apichaya
Thanunchaikunlanun, Naritthakarn
Ruangsanngamsiri, Rotsakorn
Jomoui, Wittaya
author_sort Karnpean, Rossarin
collection PubMed
description Single nucleotide polymorphisms are informative for haplotype analysis associated with genetic background and clinical linkage studies of β-thalassemia mutations. Hence, the aim of this study was to investigate five polymorphisms (codon 2 (C/T), IVS II-16 (C/G), IVS II-74 (G/T), IVS II-81 (C/T) and the Hinf I (T/A) polymorphism) on the β-globin gene, related to eight common β-thalassemia mutations in Thailand, including NT-28 (A > G), codon 17 (A > T), codon 19 (A > G), HbE (G > A), IVS I-1 (G > C), IVS I-5 (G > C), codon 41/42 (-TTCT) and IVS II-654 (C > T). The strongest LD (100%) between the β-thalassemia mutation allele and all five SNPs was found in NT-28 (A > G), codon 17 (A > T) and codon 19 (A > G). In the haplotype analysis, we found three haplotypes (H1, H2 and H7) related to Hb E, whereas we only found two haplotypes related to codon 41/42 (-TTCT) (H1, H3) and IVS I-1 (G > C) (H3, H4). Of interest is the finding relating to a single haplotype in the remaining β-thalassemia mutations. Furthermore, phylogenetic tree analysis revealed three clusters of these common β-thalassemia mutations in the Thai population and enabled us to determine the origin of these mutations. Here, we present the results of our study, including four intragenic polymorphisms and the finding that the Hinf I polymorphism could be informative in genetic background analysis, population studies and for predicting the severity of β-thalassemia in Thailand.
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spelling pubmed-94075042022-08-26 Genetic Background Studies of Eight Common Beta Thalassemia Mutations in Thailand Using β-Globin Gene Haplotype and Phylogenetic Analysis Karnpean, Rossarin Tepakhan, Wanicha Suankul, Prame Thingphom, Sitthikorn Poonsawat, Apichaya Thanunchaikunlanun, Naritthakarn Ruangsanngamsiri, Rotsakorn Jomoui, Wittaya Genes (Basel) Article Single nucleotide polymorphisms are informative for haplotype analysis associated with genetic background and clinical linkage studies of β-thalassemia mutations. Hence, the aim of this study was to investigate five polymorphisms (codon 2 (C/T), IVS II-16 (C/G), IVS II-74 (G/T), IVS II-81 (C/T) and the Hinf I (T/A) polymorphism) on the β-globin gene, related to eight common β-thalassemia mutations in Thailand, including NT-28 (A > G), codon 17 (A > T), codon 19 (A > G), HbE (G > A), IVS I-1 (G > C), IVS I-5 (G > C), codon 41/42 (-TTCT) and IVS II-654 (C > T). The strongest LD (100%) between the β-thalassemia mutation allele and all five SNPs was found in NT-28 (A > G), codon 17 (A > T) and codon 19 (A > G). In the haplotype analysis, we found three haplotypes (H1, H2 and H7) related to Hb E, whereas we only found two haplotypes related to codon 41/42 (-TTCT) (H1, H3) and IVS I-1 (G > C) (H3, H4). Of interest is the finding relating to a single haplotype in the remaining β-thalassemia mutations. Furthermore, phylogenetic tree analysis revealed three clusters of these common β-thalassemia mutations in the Thai population and enabled us to determine the origin of these mutations. Here, we present the results of our study, including four intragenic polymorphisms and the finding that the Hinf I polymorphism could be informative in genetic background analysis, population studies and for predicting the severity of β-thalassemia in Thailand. MDPI 2022-08-03 /pmc/articles/PMC9407504/ /pubmed/36011295 http://dx.doi.org/10.3390/genes13081384 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Karnpean, Rossarin
Tepakhan, Wanicha
Suankul, Prame
Thingphom, Sitthikorn
Poonsawat, Apichaya
Thanunchaikunlanun, Naritthakarn
Ruangsanngamsiri, Rotsakorn
Jomoui, Wittaya
Genetic Background Studies of Eight Common Beta Thalassemia Mutations in Thailand Using β-Globin Gene Haplotype and Phylogenetic Analysis
title Genetic Background Studies of Eight Common Beta Thalassemia Mutations in Thailand Using β-Globin Gene Haplotype and Phylogenetic Analysis
title_full Genetic Background Studies of Eight Common Beta Thalassemia Mutations in Thailand Using β-Globin Gene Haplotype and Phylogenetic Analysis
title_fullStr Genetic Background Studies of Eight Common Beta Thalassemia Mutations in Thailand Using β-Globin Gene Haplotype and Phylogenetic Analysis
title_full_unstemmed Genetic Background Studies of Eight Common Beta Thalassemia Mutations in Thailand Using β-Globin Gene Haplotype and Phylogenetic Analysis
title_short Genetic Background Studies of Eight Common Beta Thalassemia Mutations in Thailand Using β-Globin Gene Haplotype and Phylogenetic Analysis
title_sort genetic background studies of eight common beta thalassemia mutations in thailand using β-globin gene haplotype and phylogenetic analysis
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407504/
https://www.ncbi.nlm.nih.gov/pubmed/36011295
http://dx.doi.org/10.3390/genes13081384
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