Molecular Defects in Beta-Thalassaemia in the Population of Saudi Arabia
| Autor: | A. S. Warsy, Mohsen A. F. El-Hazmi, Abdulrahman Al-Swailem |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
Adult
Hemolytic anemia China Asia Population Saudi Arabia India Biology medicine.disease_cause Polymerase Chain Reaction Middle East Antigens CD Consensus Sequence Genetics medicine Humans Point Mutation Frameshift Mutation education Allele frequency Genetics (clinical) Mutation education.field_of_study Base Sequence Point mutation beta-Thalassemia Structural gene Hemoglobin A medicine.disease Thalassaemias Arabs Hemoglobinopathy |
| Zdroj: | Human Heredity. 45:278-285 |
| ISSN: | 1423-0062 0001-5652 |
| DOI: | 10.1159/000154314 |
| Popis: | The beta-thalassaemias are a heterogeneous group of inherited disorders caused by mutations in and around the structural gene of the beta-chain of the adult haemoglobin (HbA). Studies at the gene level have identified a large number of beta-thalassaemia gene variations in different populations. These findings have implications for the use of molecular diagnosis for genetic counselling and prenatal detection of the beta-thalassaemias. In our unit, we initiated studies to investigate the molecular defects in beta-thalassaemias in Saudi Arabia using amplification-refractory mutation systems, dot blot analysis and restriction endonuclease analysis, and identified mutations producing beta(+)- and beta zero-thalassaemias. Twenty of the mutations encountered in the Asian, Mediterranean, Chinese and other Arab populations were investigated. The most commonly encountered mutations in Saudi beta-thalassaemia patients were IVS-I-110, IVS-II-1, CD 39, IVS-I-5 and IVS-I 3' end (-25), while frameshifts at CD 8/9, Cap+1 (A--C) and CD 6 mutations were identified at a low frequency. These mutations account for 84.94% of the total beta-thalassaemia mutations. The remaining 15% remain unknown. This is the first report on the type and nature of mutations in Saudi beta-thalassaemia patients. It presents frequencies of twenty mutations and emphasises the need for further detailed investigations to clarify the whole spectrum of beta-thalassaemia mutations in the Saudi population. |
| Databáze: | OpenAIRE |
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