In-silico structural and phylogenetic analysis of human beta globin gene family

Abstract

There are 5 members of the human beta globin gene family. They have blood transportation function. There are some diseases related to the mutation in these gene. the common disease related to mutation these genes are sickle cell anemia, thalassemia etc. The structural and phylogenetic analysis is performed by using some bioinformatics tools. The gene sequence is retrieved and run under some tools to perform the specific analysis. The analysis performed include are similarity with other organism, determination of conserved domains and motifs, multiple sequence alignment, generation of phylogenetic tree, identification of exons and introns and determination of restriction sites. And the tools used for these analyses are BLASTP, pfam, clustal omega, MEGA7, gene structure display tool and serial cloner respectively. This study came out with a result that the genes diverged due to duplication and then mutation. The gene contain mostly non coding portion but there are 3 exons and 2 introns. The length of 2 introns is far more than that of 3 exons. In future the techniques like CRISPR/cas gene editing tool will be used to treat the disease related the beta globin gene family. Key words:human beta globin gene, bioinformatics study of HBB, genome wise study of HBB, Beta subunit, hemoglobin beta subunit.