Publication:
Genetics background of β-thalassemia (3.5 kb deletion) in Southern Thailand: Haplotype analysis using novel reverse dot blot hybridization

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Issued Date

2021

Resource Type

Article

Language

eng

File Type

application/pdf

ISSN

34800

DOI

10.1111/ahg.12416

Other identifier(s)

2-s2.0-85100753291

Rights Holder(s)

Scopus

Bibliographic Citation

Annals of Human Genetics. Vol 85, No.44624 (2021), p.115-124

Suggested Citation

Tepakhan W., Srewaradachpisal K., Kanjanaopas S., Jomoui W. Genetics background of β-thalassemia (3.5 kb deletion) in Southern Thailand: Haplotype analysis using novel reverse dot blot hybridization. Annals of Human Genetics. Vol 85, No.44624 (2021), p.115-124. doi:10.1111/ahg.12416 Retrieved from: https://hdl.handle.net/20.500.14740/7820

Title

Genetics background of β-thalassemia (3.5 kb deletion) in Southern Thailand: Haplotype analysis using novel reverse dot blot hybridization

Author(s)

Tepakhan W.
 Srewaradachpisal K.
 Kanjanaopas S.
 Jomoui W.

Abstract

β-thalassemia (β-thal) (3.5 kb deletion or NC_000011.10:g.5224302-5227791del3490bp) is a common mutation in southern Thailand. This study aimed to determine genetic diversity in subjects with β-thal (3.5 kb deletion) alleles and to ascertain the origin of this mutation using haplotype and phylogenetic analysis. The study was carried out on members of the southern Thai population, including 45 normal individuals, 116 heterozygous β-thal (3.5 kb deletion) and one homozygous β-thal (3.5 kb deletion). The 5′-haplotype in β-globin gene cluster was examined using newly developed reverse dot blot hybridization (RDB) and compared with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The results showed 100% concordance between the haplotype patterns of these two methods. From a total of 324 chromosomes, nine haplotypes were segregated. Haplotype H2 (+ – – – –) was the predominant haplotype observed in all 118 β-thal (3.5 kb deletion) chromosomes, which revealed a single origin. The phylogenetic tree demonstrated that β-thal (3.5 kb deletion) has an older genetic defect in this region. Moreover, the developed RDB is simple, less time-consuming, inexpensive, and does not restriction enzyme digestion. © 2021 John Wiley & Sons Ltd/University College London

Subject(s)

Hemoglobin beta chain
 Hemoglobin beta chain
 Adult
 Allele
 Article
 Beta thalassemia
 Chromosome segregation
 DNA polymorphism
 Dot hybridization
 Female
 Genetic variability
 Genotype
 Globin gene
 Haplotype
 Human
 Major clinical study
 Male
 Phylogenetic tree
 Phylogeny
 Polymerase chain reaction restriction fragment length polymorphism
 Priority journal
 Thailand
 Allele
 Beta thalassemia
 Gene deletion
 Gene frequency
 Genetics
 Haplotype
 Alleles
 Beta-Globins
 Beta-Thalassemia
 Gene Frequency
 Haplotypes
 Humans
 Sequence Deletion
 Thailand

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URI

https://hdl.handle.net/20.500.14740/7820

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Scopus: Year 1983-2021

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