Molecular Analysis of Single Nucleotide Polymorphism (SNPs) for ?- Globin Gene in Tribes of Madhya-Pradesh, India

Dr. Ruchira Chaudhary; Dr. Nitin Pathak; Dr. Nitin Batav; Dr. Rasika Pathak

Volume : X, Issue : I, January - 2020

Molecular Analysis of Single Nucleotide Polymorphism (SNPs) for ?- Globin Gene in Tribes of Madhya-Pradesh, India

Dr. Ruchira Chaudhary, Dr. Nitin Pathak, Dr. Nitin Batav, Dr. Rasika Pathak

Abstract :

Hemoglobinopathies are associated with the inherited diseases characterized by structural or biochemical defects in haemoglobin chain. HBB (Human β–globin) gene relates naturally occurring genetic variation in humans. The purpose of the study is to analyze exon specific HBB gene mutations and to observe diversity in all 3 exons of HBB gene by Single Nucleotide Polymorphism (SNP) marker, among the three communities of M.P. ie. Raj–Gond, Baiga Kunbi. Total 520 samples are amplified with exon specific primers of HBB gene, followed by Polymerase Chain Reaction (PCR). Sequence analysis of 97.71% good quality sequences was performed followed by SNP–BLAST online tool and then analyzed for notified SNP against database at NCBI. Molecular marker based genetic diversity was observed and phylo–genetically analyzed by dendogram. Total 191 sites in HBB1 and HBB2 region were detected as SNP variant and no polymorphic sites were observed in HBB3 region. The SNP variant site detected in the study are 3383 (T→C, rs: 63750898), 3466 (G→C, rs: 33960103) in HBB1 region, 3835 (G→C, rs: 63750898), 3893 (T→G, rs: 7480526) and 3900 (C→T, rs: 7946748) in HBB2 region. The BLAST–X analysis identified the presence of CDS from average ~ 127 positions. The SNP study was followed by phylogentic analysis for genetic diversity/distance/variation. Protein structure study can be carried out which allows visualization of the locations of mutation on the 3D structure.