Analysis of Human Beta Globin Gene and its Sequence Variants
Journal Title: UNKNOWN - Year 2017, Vol 1, Issue 3
Abstract
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.
Authors and Affiliations
MUHAMMAD WASEEM SHOAIB, HIRA MUBEEN, SHAHID RAZA
Keywords
Related Articles
- EP ID EP276550
- DOI -
- Views 103
- Downloads 0
Effectiveness Of Gamma Radiation Technology For Abating Postharvest Losses Of Banana (Musa Sapientum) By Targeting The Residential Microflora
Banana (Musa spp.), member of the family Musaceae, is the perennial herb mostly grown in the tropical areas situated at latitude 30° above and below the equator covering the warmer countries of the world. This regional b...
Quality of Life in Patients of Melasma
To determine the impact of Melasma on patient’s quality of life using life quality index “Melasma quality of life scale.” A cross sectional study was carried out at dermatology departments of Mayo, Services, and Shalimar...
Fecal Matter as a Bio-indicator of Heavy Metal Toxification in Punjab Urial
Heavy metals are a major class of pollutants that are responsible for high level of toxicity in living beings. These metals have the tendency to bio-accumulate in the living tissues; their levels can be determined in the...
Evaluation of Phytochemicals and Antimicrobial Potential of Clove (Syzygium aromaticum)
The flower bud of Syzygium aromaticum (clove) is one of the most imperative remedies used in indigenous medicine in Pakistan. Syzygium aromaticum is an effective drug for different ailments, and it is used as anti-gas ac...
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 express...