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Cd60 (GTG > GAG)/Hb Cagliari mutation was found in scanning of β-thalassemia alleles from patients of East Kalimantan, Indonesia

BACKGROUND AND PURPOSE: Thalassemia is a genetic disorder with a fairly high prevalence worldwide. Three to 10% of Indonesian people are estimated to be carriers for thalassemia. This study was intended to figure out the spectrum of genetic mutations of patients with thalassemia in Samarinda City, E...

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Autores principales: Susanto, ZaenalAdi, Siswandari, Wahyu, Rujito, Lantip
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6933185/
https://www.ncbi.nlm.nih.gov/pubmed/31890591
http://dx.doi.org/10.1016/j.ymgmr.2019.100550
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author Susanto, ZaenalAdi
Siswandari, Wahyu
Rujito, Lantip
author_facet Susanto, ZaenalAdi
Siswandari, Wahyu
Rujito, Lantip
author_sort Susanto, ZaenalAdi
collection PubMed
description BACKGROUND AND PURPOSE: Thalassemia is a genetic disorder with a fairly high prevalence worldwide. Three to 10% of Indonesian people are estimated to be carriers for thalassemia. This study was intended to figure out the spectrum of genetic mutations of patients with thalassemia in Samarinda City, East Kalimantan. METHODS: The research subjects consisted of 31 β-thalassemia patients registered with the Association of Thalassemia Patients' Parents (POPTI) of Samarinda. DNAs were extracted from the patients' blood samples then amplified by the direct sequencing technique with polymerase chain reaction to analyze β-globin gene mutations. RESULT: The study results show that the male/female ratio was 51.6%:48.4%, the patients' ages ranged from 4 years to 56 years with an average age of 14 years, and the dominant ethnic group was Javanese (64.5%). The DNA analysis yielded 7 types of mutant alleles, namely Cd26/HbE (GAG>AAG) at 48.4%, IVS-1-5 (G > C) at 14.5%, IVS-1-2 (T > C) at 12.9%, Cd35 (-C) at 8.1%, IVS-1-1 (G > T) at 6.5%, and, the least frequently encountered mutant alleles, Cd30 (AGG > ACG) and Cd60 (GTG > GAG) each at 3.2%. CONCLUSION: This study discovered unreported mutant in Indonesia, namely Cd60 (GTG > GAG).
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spelling pubmed-69331852019-12-30 Cd60 (GTG > GAG)/Hb Cagliari mutation was found in scanning of β-thalassemia alleles from patients of East Kalimantan, Indonesia Susanto, ZaenalAdi Siswandari, Wahyu Rujito, Lantip Mol Genet Metab Rep Short Communication BACKGROUND AND PURPOSE: Thalassemia is a genetic disorder with a fairly high prevalence worldwide. Three to 10% of Indonesian people are estimated to be carriers for thalassemia. This study was intended to figure out the spectrum of genetic mutations of patients with thalassemia in Samarinda City, East Kalimantan. METHODS: The research subjects consisted of 31 β-thalassemia patients registered with the Association of Thalassemia Patients' Parents (POPTI) of Samarinda. DNAs were extracted from the patients' blood samples then amplified by the direct sequencing technique with polymerase chain reaction to analyze β-globin gene mutations. RESULT: The study results show that the male/female ratio was 51.6%:48.4%, the patients' ages ranged from 4 years to 56 years with an average age of 14 years, and the dominant ethnic group was Javanese (64.5%). The DNA analysis yielded 7 types of mutant alleles, namely Cd26/HbE (GAG>AAG) at 48.4%, IVS-1-5 (G > C) at 14.5%, IVS-1-2 (T > C) at 12.9%, Cd35 (-C) at 8.1%, IVS-1-1 (G > T) at 6.5%, and, the least frequently encountered mutant alleles, Cd30 (AGG > ACG) and Cd60 (GTG > GAG) each at 3.2%. CONCLUSION: This study discovered unreported mutant in Indonesia, namely Cd60 (GTG > GAG). Elsevier 2019-12-20 /pmc/articles/PMC6933185/ /pubmed/31890591 http://dx.doi.org/10.1016/j.ymgmr.2019.100550 Text en © 2019 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Short Communication
Susanto, ZaenalAdi
Siswandari, Wahyu
Rujito, Lantip
Cd60 (GTG > GAG)/Hb Cagliari mutation was found in scanning of β-thalassemia alleles from patients of East Kalimantan, Indonesia
title Cd60 (GTG > GAG)/Hb Cagliari mutation was found in scanning of β-thalassemia alleles from patients of East Kalimantan, Indonesia
title_full Cd60 (GTG > GAG)/Hb Cagliari mutation was found in scanning of β-thalassemia alleles from patients of East Kalimantan, Indonesia
title_fullStr Cd60 (GTG > GAG)/Hb Cagliari mutation was found in scanning of β-thalassemia alleles from patients of East Kalimantan, Indonesia
title_full_unstemmed Cd60 (GTG > GAG)/Hb Cagliari mutation was found in scanning of β-thalassemia alleles from patients of East Kalimantan, Indonesia
title_short Cd60 (GTG > GAG)/Hb Cagliari mutation was found in scanning of β-thalassemia alleles from patients of East Kalimantan, Indonesia
title_sort cd60 (gtg > gag)/hb cagliari mutation was found in scanning of β-thalassemia alleles from patients of east kalimantan, indonesia
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6933185/
https://www.ncbi.nlm.nih.gov/pubmed/31890591
http://dx.doi.org/10.1016/j.ymgmr.2019.100550
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