MOLECULAR ANALYSIS OF SINGLE NUCLEOTIDE POLYMORPHISM (SNPs) FOR β- 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 specic 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 amplied with exon specic 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 notied 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 identied 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


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