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Vol - 28, Issue - 01
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[This article belongs to Volume - 28, Issue - 01]
International Medical Journal
Journal ID
:
IMJ-31-12-2020-711
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:
367
Title
:
Genetic Polymorphism and Diversity Associated with Sickle Cell Disease Correlating with Complications
Abstract
: Genetic modifications in sickle cell disease (SCD) result in clinical diversity. We analyzed the hereditary polymorphism in 45 patients diagnosed with sickle cell anemia (SCA). Patients with SCA presenting at a tertiary care hospital of Eastern India, who were diagnosed based on clinical and hematological examinations were included in this study. The genetic polymorphism was determined using DNA isolation from the patients’ blood samples followed by DNA quantification, amplification through polymerase chain reaction (PCR), sequencing using BLAST X tool and phylogenetic analysis based on MEGA 6 software to estimate the evolutionary relationships of the nucleotide. A total of 60 samples were collected from 45 patients. Of these 60 samples, the DNA isolation and purification resulted in 45 successful PCR amplifications using a gene specific to sickle cell hemoglobinopathy. An unrooted neighbor joining the phylogenetic tree was built from the nucleotide sequence alignment, which showed that some of the sequences were closely associated and some were diverse. The sequence and phylogenetic information associated with goblin chain can be utilized in further research in SCA and other hemoglobinopathies.
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