دورية أكاديمية
The spectrum of beta-globin gene mutations in children with beta-thalassaemia major from Kota Kinabalu, Sabah, Malaysia.
| العنوان: | The spectrum of beta-globin gene mutations in children with beta-thalassaemia major from Kota Kinabalu, Sabah, Malaysia. |
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| المؤلفون: | Thong MK; Genetics Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia. thongmk@um.edu.my, Soo TL |
| المصدر: | Singapore medical journal [Singapore Med J] 2005 Jul; Vol. 46 (7), pp. 340-3. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wolters Kluwer - Medknow Country of Publication: India NLM ID: 0404516 Publication Model: Print Cited Medium: Print ISSN: 0037-5675 (Print) Linking ISSN: 00375675 NLM ISO Abbreviation: Singapore Med J Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: July 2022- : [Mumbai] : Wolters Kluwer - Medknow Original Publication: Singapore, Singapore Medical Assn. |
| مواضيع طبية MeSH: | Beta-Globulins/*genetics , beta-Thalassemia/*ethnology , beta-Thalassemia/*genetics, Child ; Chromosome Deletion ; Electrophoresis, Gel, Two-Dimensional ; Humans ; Malaysia ; Mutation ; Polymerase Chain Reaction |
| مستخلص: | Introduction: Beta-thalassaemia major is one of the commonest genetic disorders in South East Asia. The strategy for the community control of beta-thalassaemia major requires the characterisation of the spectrum of beta-globin gene mutations in any multi-ethnic population. There is only a single report of mutation analyses of the beta-globin gene in an isolated Kadazandusun community in Kota Belud, Sabah, Malaysia, which showed the presence of a common 45 kb deletion. Methods: To confirm the observation that this large deletion is the commonest beta-globin gene mutation among the Kadazandusun and other indigenous populations in Sabah, Malaysia, we performed polymerase chain reaction (PCR) analysis of the beta-globin gene in ten children with beta-thalassaemia major attending the Thalassaemia Centre, Queen Elizabeth Hospital, the major paediatric referral centre in Kota Kinabalu, Sabah. Results: The 45 kb deletion was confirmed to be the commonest mutation found in the Kadazandusun, Bajau and Murut populations, whereby it was detected in 19 out of the 20 (95 percent) alleles analysed. The other mutation was due to an IVS-1 position 1 G > T mutation. Conclusion: This finding confirmed the deletion in the homozygous state was associated with a severe phenotype. The reason for the predominance of this mutation in Kota Kinabalu is most likely to be due to founder effects and possibly intermarriages between the various ethnic groups. Prenatal diagnosis using PCR for this common mutation is feasible in this community. Medical workers and scientists at molecular diagnostic centres serving large South East Asian populations should incorporate a diagnostic strategy for this deletion in the appropriate population. Future studies on these indigenous ethnic groups in other areas and other groups in Sabah are required. |
| المشرفين على المادة: | 0 (Beta-Globulins) |
| تواريخ الأحداث: | Date Created: 20050622 Date Completed: 20050930 Latest Revision: 20220408 |
| رمز التحديث: | 20231215 |
| PMID: | 15968446 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 0037-5675 |
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