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Malaysian Journal of Medical Sciences
School of Medical Sciences, Universiti Sains Malaysia
ISSN: 1394-195X
Vol. 25, No. 4, 2018, pp. 63-71
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Bioline Code: mj18047
Full paper language: English
Document type: Research Article
Document available free of charge
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Malaysian Journal of Medical Sciences, Vol. 25, No. 4, 2018, pp. 63-71
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Haplotype Analysis of β-Thalassaemia Major and Carriers with Filipino β°-Deletion in Sabah, Malaysia
Teh, Lai Kuan; Elizabeth, George; Lai, Mei I; Wong, Lily & Ismail, Patimah
Abstract
Objective: The Filipino β°-deletion has been reported as a unique mutation in East
Malaysia with a severe phenotype due to the complete absence of β-globin chain synthesis. In this
study, the haplotype patterns of the β-globin gene cluster were used to relate the human genetic
variation to this specific β-thalassaemia mutation.
Methods: The 376 study subjects included 219 β-thalassaemia major (β-TM) patients with
homozygous Filipino β°-deletion and 157 carriers with heterozygous Filipino β°-deletion from 10
government hospitals in different regions of Sabah. Genomic DNA was isolated from whole blood
using silica membrane based DNA purification protocol. Polymerase chain reaction restriction
fragment length polymorphism analysis (PCR-RFLP) was conducted on five markers within the
β-globin gene cluster to construct the haplotype patterns.
Results: Four haplotypes (Haplotype I–IV) were identified with Haplotype I as the
predominant haplotype with the highest frequency of 0.98, followed by Haplotype II, III and
Haplotype IV with 0.02. Haplotype I was strongly linked with the Filipino β°-deletion among the
indigenous population.
Conclusion: Haplotype I as the predominant haplotype suggests the patients with the
Filipino β°-deletion in Sabah have a similar origin.
Keywords
haplotypes; β-thalassaemia major; β-thalassaemia carrier; Filipino β°-deletion; Sabah; Malaysia
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