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


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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Balgir R, Dash B, Murmu B, (2004). Blood groups, hemoglobinopathy and G-6-PD deficiency: investigations among fifteen major scheduled tribes of Orissa, India. Anthropologist 6: 69.

Barreiro LB, Laval G, Quach H, Patin E, Quintana-Murci L., 2008. "Natural selection has driven population differentiation in modern humans.". Nature Genetics 40: 340–345.

Bharti, D., Chaudhary, R., Chahal, S.M.S. and Sharma, G. (2007). Distribution of Serological and Biochemical Markers in the Keer Tribe of M.P. Asian J. Exp. Sci. 21(2): 337-340.

Bhasin, M.K. and Chahal, S.M.S. (1996). A Laboratory Manual for Human Blood Analysis. Delhi: Kamla Raj Enterprises.

Campbell, James S., 2009. Alpha and Beta thalassemia. Am Fam Physician. 15;80(4):339-344.

Chang, J.-G., Chiou, S.-S., Perng, L.-I., Chen, T.-C., Liu, T.-C., Lee, L.-S. and Tang, T.K. Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency by natural and amplification created restriction sites: Five mutations account for most G6PD deficiency cases in Taiwan. Blood 80:1079-1082, 1992.

Chaudhary R, Thangaraj K, 2013. Use of FTA in nucleic acid research: An optimization study for G6PD gene with FTA. Asian J. Exp. Sci., vol. 27, 1; 55-59

Chin, Joanna Y.; Kuan, Jean Y.; Lonkar, Pallavi S.; Krause, Diane S.; Seidman, Michael M.; Peterson, Kenneth R.; Nielsen, Peter E.; Kole, Ryszard (2008). "Correction of a splice-site mutation in the beta-globin gene stimulated by triplex-forming peptide nucleic acids". Proceedings of the National Acad. of Sciences 105 (36): 13514–9.

Colosimo A, Guida V, De Luca A, (2002). Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles. Hum Mutat. 2002;19:287-295.

Das, K., Malhotra, K.C., Mukherjee, B.N., Walter, H., Majumder, P.P. and Papiha, S.S. 1996. Population structure and genetic differentiation among 16 tribal populations of Central India. Hum. Biol. 68: 679-705.

Excoffier, L., Laval, G. and Schneider, S. 2005. Arlequin (version 3.0): an integrated software package for population genetic data analysis. Evol.Bioinformatics 1:47–50.

Garewal,G. Fearon, C.W., N. Marwaha and Kazazian(1994). The Molecular basis of beta thalassemia in Punjab and Maharashtrian Indians with aetiology. Br. J. Hematol. 86,372-376.

Hung CC, Su YN, Lin CY, 2008. Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for identification of HBB gene mutations. BMC Biotechnology 2008, doi:10.1186/1472-6750-8-62.

Jain R.C., Andrew A.M.R., and Choukisa S.L.(1983): Sickle cell and thalassemic genes in the tribal population of Rajasthan. Ind. J. Med. Res. 78:836:840.

Jeanmougin, F., Thompson, J.D., Gouy, M., Higgins, D.G. and Gibson, T.J.1998. Multiple sequence alignment with Clustal X. Trends Biochem. Sci. 23: 403-405.

Liew M., Pryor R., Palais R., Meadows C., Erali M., Lyon E., Wittwer C 2004. Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons. Clin Chem. 50(7):1156-64.

Liu, J. and Muse. 2005. Power Marker: an intergrated analysis environment for genetic marker analysis. Bioinformatics 21: 2128-2129.

Mason PJ 2007. G-6-PD: The genotype-phenotype association. Blood rev. 21, 5:267-283.

Modell B, Darlison M, Petron, P.A. Birgens H, Reddy, R.S. Tiwary and B, (2007). Hereditary anaemias and iron deficiency in a tribal; population (the Baiga) of the central India.” Eur. J. Haematol., 55: 103-109.

Nguyen Thi Hue, Jean Paul Charlieu (2009). G6PD mutations and hemoglobinuria syndrome in the Vietnamese population. Malaria Journal 8:152.

Orkin S.H., Kazazian, H. Jr, Goff S.C., Waber P.G.(1984). Molecular characterization of seven beta thalassemia mutations in Assian Indians. EMBO. J.3,593-596.

Papiha, S.S., Roberts, D.F., Mukherjee, D.P., Singh, S.D. and Malhotra, M. 1978. A genetic survey in the Bhil tribe of Madhya Pradesh, Central India. Am. J. Phys. Anthop. 49: 179-185.

Patrinos GP, Giardine B, Riemer C, (2004). Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004;32(database issue):D537-D541.

Sambrook J, Fritschi EF and Maniatis T (1989) Molecular cloning: a laboratory manual, Cold Spring Harbor Laboratory Press, New York.

Tamura, K., Nei, M. (2007). MEGA4: Molecular Evolutionary Genetics Analysis (MEGA) software version 4.0. Molecular Biology and Evolution 24: 1596-1599.

Thein SL. (2008): Genetic modifiers of the betahaemoglobinopathies.Br J Haematol. 141:357-366.

Timothy Shanahan (2004). The evolution of Darwinism - The California Uni. Press.

Verma,I.C., Saxena,R., Thomas, E., and Jain P.K.(1997). Regional distribution of beta thalassemia mutations in india. Hum. Genet. 100,109-113.

Vichinsky EP, 2005. Changing pattern of Thalassemia worldwide. Ann NY Acad Sci.;1054:18-24.

Weatherall DJ, Clegg JB. Inherited haemoglobin disorders: an increasing global health problem. Bull World Health Organ. 2001;79:704-712

Weiner, J.S., and Lourie, J.A. (1969). Human Biology: A Guide to Field Methods, Oxford: Blackwell Scientific Publication.

Wittwer CT., Gudrun H. Reed, Cameron N. Gundry, Joshua G., Pryor 2003. High resolution genotyping by amplicon melting analysis using LCGreen. Clin. Chem. 49:6, 853-860, Molecular diagnostics and genetics.


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