Haplotype analysis of β-Thalassaemia major and carriers with Filipino β°-deletion in Sabah, Malaysia
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...
| Glavni autori: | , , , , |
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| Format: | Članak |
| Jezik: | English |
| Izdano: |
Penerbit Universiti Sains Malaysia
2018
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| Online pristup: | http://psasir.upm.edu.my/id/eprint/74490/1/Haplotype%20analysis.pdf |
| _version_ | 1825950346101391360 |
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| author | Teh, Lai Kuan Elizabeth, George Lai, Mei I. Wong, Lily Ismail, Patimah |
| author_facet | Teh, Lai Kuan Elizabeth, George Lai, Mei I. Wong, Lily Ismail, Patimah |
| author_sort | Teh, Lai Kuan |
| collection | UPM |
| description | 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. |
| first_indexed | 2024-03-06T10:13:11Z |
| format | Article |
| id | upm.eprints-74490 |
| institution | Universiti Putra Malaysia |
| language | English |
| last_indexed | 2024-03-06T10:13:11Z |
| publishDate | 2018 |
| publisher | Penerbit Universiti Sains Malaysia |
| record_format | dspace |
| spelling | upm.eprints-744902020-10-17T20:28:54Z http://psasir.upm.edu.my/id/eprint/74490/ 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 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. Penerbit Universiti Sains Malaysia 2018-08 Article PeerReviewed text en http://psasir.upm.edu.my/id/eprint/74490/1/Haplotype%20analysis.pdf Teh, Lai Kuan and Elizabeth, George and Lai, Mei I. and Wong, Lily and Ismail, Patimah (2018) Haplotype analysis of β-Thalassaemia major and carriers with Filipino β°-deletion in Sabah, Malaysia. Malaysian Journal of Medical Sciences, 25 (4). 63 - 71. ISSN 1394-195X https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422544/ 10.21315/mjms2018.25.4.6 |
| spellingShingle | Teh, Lai Kuan Elizabeth, George Lai, Mei I. Wong, Lily Ismail, Patimah Haplotype analysis of β-Thalassaemia major and carriers with Filipino β°-deletion in Sabah, Malaysia |
| title | Haplotype analysis of β-Thalassaemia major and carriers with Filipino β°-deletion in Sabah, Malaysia |
| title_full | Haplotype analysis of β-Thalassaemia major and carriers with Filipino β°-deletion in Sabah, Malaysia |
| title_fullStr | Haplotype analysis of β-Thalassaemia major and carriers with Filipino β°-deletion in Sabah, Malaysia |
| title_full_unstemmed | Haplotype analysis of β-Thalassaemia major and carriers with Filipino β°-deletion in Sabah, Malaysia |
| title_short | Haplotype analysis of β-Thalassaemia major and carriers with Filipino β°-deletion in Sabah, Malaysia |
| title_sort | haplotype analysis of β thalassaemia major and carriers with filipino β° deletion in sabah malaysia |
| url | http://psasir.upm.edu.my/id/eprint/74490/1/Haplotype%20analysis.pdf |
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