Analysis of Human Beta Globin Gene and its Sequence Variants

Hemoglobin is a protein commonly found in in red blood cells of all vertebrates and invertebrates. It consists of two chains, mainly alpha and beta chain. The globin genes are used as a model system to study gene expression in various eukaryotic organisms. Moreover, these genes controls the gene regulation process. Mutations in these genes can cause destruction in various regulatory pathways encoded by beta globin genes. The introns in beta globin genes mostly interrupts the sequence between codons 30-31 and between codons 104-105. The study involves a comparative genomics approach for identification and analysis of selected human beta globin gene (HBB) by using various computational tools. The nucleotide sequence of HBB gene was obtained from Genbank-NCBI and analyzed to study the transcripts within the coding region of gene by using ensemble software. These transcript maps will help to understand the regulatory features of genes, splice variants and putative indels in the reading frame. Also, the protein encoded by coding region of HBB gene was further analyzed to study various protein domains, profiles and signatures. This was done by using Interpro and CDD domain analysis software. The results are presented along with the proposed utilization of the studied gene. Comparative approaches are not only useful for evolutionary analysis but also can help to understand the function of various conserved genes.