Mutation Pattern in Beta Thalassaemia Trait Population: A Basis for Prenatal Diagnosis
Keywords:Beta thalassaemia carrier, ARMS-PCR, Bangladeshi mutation, Prenatal diagnosis
A total of 100 Bangladeshi beta thalassaemia carrier subjects were analysed by allele specific primers using Amplification Refractory Mutation System – Polymerase Chain Reaction. Among these, four common mutations were found in 90 cases (90.0%), five less common mutations in 9 cases (9.0%) and a rare mutation in 1 case (1.0%). Among the four common mutations, IVS1-5 (G-C) was the most common beta thalassaemia mutation and found in 63.0% cases, followed by Cd 30 (G-C) in 18.0%, Fr 8/9 (+G) in 5.0% and Fr 41/42 (-TTCT) in 4.0% respectively. Among the five less common mutations, Cd16 (-C) was found in 3.0%, -90 (C-T) and IVS1-130 (G-C) were seen in 2.0% each and remaining Cd15 (-T) and Cd15 (G-A) were detected in 1.0% each. The rare mutation was -29 (A-G), observed in one case (1.0%). With the application of this knowledge, it will help us for prenatal diagnosis and genetic counselling in Bangladesh for prevention of the disease.
1090 ONLINE VIEW
How to Cite
Authors who publish with this journal agree to the following terms.
Authors retain copyright and grant the journal right of first publication.
Articles in the Bangladesh Medical Research Council Bulletin are licensed under a Creative Commons Attribution 4.0 International License (CC-BY) that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).