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Further identification of Hb G-Coushatta [β22(B4)Glu→Ala (GAA→GCA)] in Thailand by the polymerase chain reaction-single-strand conformation polymorphism technique and by amplification refractory mutation system-polymerase chain reaction

Issued Date

2007-01-01

Resource Type

Article

ISSN

1532432X
03630269

DOI

10.1080/03630260601059225

Other identifier(s)

2-s2.0-33847062474

Rights

Mahidol University

Rights Holder(s)

SCOPUS

Bibliographic Citation

Hemoglobin. Vol.31, No.1 (2007), 93-99

Suggested Citation

Worrawut Chinchang, Vip Viprakasit Further identification of Hb G-Coushatta [β22(B4)Glu→Ala (GAA→GCA)] in Thailand by the polymerase chain reaction-single-strand conformation polymorphism technique and by amplification refractory mutation system-polymerase chain reaction. Hemoglobin. Vol.31, No.1 (2007), 93-99. doi:10.1080/03630260601059225 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/24278

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Title

Further identification of Hb G-Coushatta [β22(B4)Glu→Ala (GAA→GCA)] in Thailand by the polymerase chain reaction-single-strand conformation polymorphism technique and by amplification refractory mutation system-polymerase chain reaction

Author(s)

Worrawut Chinchang
 Vip Viprakasit

Other Contributor(s)

Mahidol University

Abstract

Thalassemias and hemoglobinopathies are very common among Southeast Asian populations, particularly in Thailand, where it is estimated that nearly 30% of the population carries at least one such disorder. Moreover, the heterogeneity of different mutant α- and β-globin alleles contributes to the complexity in diagnosis and proper management, as more than 60 thalassemia syndromes and hemoglobinopathies have been described. Herein we report a further case of Hb G-Coushatta [β22(B4)Glu→Ala (GAA→GCA)] (also known as G-Saskatoon, G-Hsin Chu and G-Taegu) in a Thai family in which the mother was found to have an unusual hemoglobin (Hb) anomaly in combination with Hb E [β26(B8)Glu→Lys, GAG→AAG]. We applied our recently described polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique to scan the β-globin genes and found an aberrant pattern in exon 1. The molecular analysis by direct genomic sequencing successfully identified the nucleotide mutation (codon 22, GAA→GCA), and a novel amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) for this variant is described. Copyright © Informa Healthcare.

Keyword(s)

Biochemistry, Genetics and Molecular Biology
 Medicine

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URI

https://repository.li.mahidol.ac.th/handle/20.500.14594/24278

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Scopus 2006-2010