IDENTIFICATION OF β-GLOBIN MUTATIONS WHICH PRODUCED β-THALASSEMIA BY ARMS-PCR ASSAY AND DIRECT SEQUENCING
DOI:
https://doi.org/10.17656/jsmc.10096Keywords:
β-globin, β-thalassemia, ARMS-PCRAbstract
Background
Thalassemia is the most common recessive single gene disease in humans which is caused by inheritance of an affected allele from both parents resulting in impaired production of the globin chain.
Objectives
This study was established in order to; 1. Identify β-globin mutations, which produced β-thalassemia by ARMS-PCR assay and direct sequencing and identifying the spectrum of mutations causing β-thal in the KRG. Also to investigate the usefulness of the PCR-ARMS technique followed by DNA sequencing as diagnostic tools that could be applied for carrier detection and prenatal diagnosis; 2. Establishment and present a feasible protocol for molecular diagnosis of β-thalassemia in KRG region.
Methods
Screening for β- thalassemia mutations using PCR-ARMS for frequent mutations in the KRG population followed by DNA sequencing of the unknown alleles could be useful for the implementation of a strategy for carrier detection and preimplantation genetic diagnosis in high risk families.
Results
A total of thirty β-thalassemia patients including 16 males (53.33%) and 14 females (46.66%) were examined by PCR assay using specific primers for each of mutations. The results indicate that these mutations detected in this study were also detected in surrounding countries which occurred with varying frequency.
Conclusion
These results are in line with studies in other parts of the world which have shown that gene flow due to population migration is common. Rapid, accurate genotyping methodologies for specific, causative mutations of the β-globin gene are needed for pre- and postnatal screening and diagnosis of this disease in different ethnic populations.
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