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      Heterogeneity of O blood group in India: Peeping through the window of molecular biology

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          Abstract

          BACKGROUND:

          Molecular genotyping of ABO blood group system has identified more than 60 “O” group alleles based on the single-nucleotide polymorphisms present in the ABO gene. Heterogeneity of O group alleles has been observed in various countries from South America, Europe, Middle East, and Asia. India is a vast country with more than 1300 million population which is divided into various ethnic and tribal groups. However, very little is known about the heterogeneity of O alleles in Indians.

          MATERIALS AND METHODS:

          A total of 116 O group individuals from the mixed population of Mumbai, India, were enrolled in the present study. DNA was extracted using the standard phenol–chloroform method. The exons 6 and 7 of the ABO gene were genotyped by polymerase chain reaction-single-strand conformation polymorphism and/or DNA sequencing. The genotyping results were compared with our earlier findings.

          RESULTS AND DISCUSSION:

          Overall, ten different genotypes were identified. Three rare alleles, namely, O05, O11, and O26 were seen in the mixed group category. These results suggest that there is an internal heterogeneity in the mixed group while Dhodias and Parsis, the groups which were screened earlier, seem to be more homogenous groups. An important piece of information emerges out from this study, that is, O01O02 genotype is expressing some selective force in population groups screened in India as well as many other groups worldwide.

          CONCLUSION:

          In the future, molecular genotyping of the ABO blood group system among different ethnic and tribal Indian groups would help in generating data to fill up the gaps in the molecular ABO map of the world.

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          Most cited references39

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          Molecular genetic basis of the histo-blood group ABO system.

          The histo-blood group ABO, the major human alloantigen system, involves three carbohydrate antigens (ABH). A, B and AB individuals express glycosyltransferase activities converting the H antigen into A or B antigens, whereas O(H) individuals lack such activity. Here we present a molecular basis for the ABO genotypes. The A and B genes differ in a few single-base substitutions, changing four amino-acid residues that may cause differences in A and B transferase specificity. A critical single-base deletion was found in the O gene, which results in an entirely different, inactive protein incapable of modifying the H antigen.
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            The relationship between blood groups and disease.

            The relative contribution of founder effects and natural selection to the observed distribution of human blood groups has been debated since blood group frequencies were shown to differ between populations almost a century ago. Advances in our understanding of the migration patterns of early humans from Africa to populate the rest of the world obtained through the use of Y chromosome and mtDNA markers do much to inform this debate. There are clear examples of protection against infectious diseases from inheritance of polymorphisms in genes encoding and regulating the expression of ABH and Lewis antigens in bodily secretions particularly in respect of Helicobacter pylori, norovirus, and cholera infections. However, available evidence suggests surviving malaria is the most significant selective force affecting the expression of blood groups. Red cells lacking or having altered forms of blood group-active molecules are commonly found in regions of the world in which malaria is endemic, notably the Fy(a-b-) phenotype and the S-s- phenotype in Africa and the Ge- and SAO phenotypes in South East Asia. Founder effects provide a more convincing explanation for the distribution of the D- phenotype and the occurrence of hemolytic disease of the fetus and newborn in Europe and Central Asia.
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              Ethnic India: a genomic view, with special reference to peopling and structure.

              We report a comprehensive statistical analysis of data on 58 DNA markers (mitochondrial [mt], Y-chromosomal, and autosomal) and sequence data of the mtHVS1 from a large number of ethnically diverse populations of India. Our results provide genomic evidence that (1) there is an underlying unity of female lineages in India, indicating that the initial number of female settlers may have been small; (2) the tribal and the caste populations are highly differentiated; (3) the Austro-Asiatic tribals are the earliest settlers in India, providing support to one anthropological hypothesis while refuting some others; (4) a major wave of humans entered India through the northeast; (5) the Tibeto-Burman tribals share considerable genetic commonalities with the Austro-Asiatic tribals, supporting the hypothesis that they may have shared a common habitat in southern China, but the two groups of tribals can be differentiated on the basis of Y-chromosomal haplotypes; (6) the Dravidian tribals were possibly widespread throughout India before the arrival of the Indo-European-speaking nomads, but retreated to southern India to avoid dominance; (7) formation of populations by fission that resulted in founder and drift effects have left their imprints on the genetic structures of contemporary populations; (8) the upper castes show closer genetic affinities with Central Asian populations, although those of southern India are more distant than those of northern India; (9) historical gene flow into India has contributed to a considerable obliteration of genetic histories of contemporary populations so that there is at present no clear congruence of genetic and geographical or sociocultural affinities.
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                Author and article information

                Journal
                Asian J Transfus Sci
                Asian J Transfus Sci
                AJTS
                Asian Journal of Transfusion Science
                Medknow Publications & Media Pvt Ltd (India )
                0973-6247
                1998-3565
                Jan-Jun 2018
                : 12
                : 1
                : 62-68
                Affiliations
                [1] Department of Transfusion Medicine, National Institute of Immunohaematology, Indian Council of Medical Research, Mumbai, Maharashtra, India
                Author notes
                Address for correspondence: Dr. Ajit Gorakshakar, Department of Transfusion Medicine, National Institute of Immunohaematology, 13 th Floor, New Multistoreyed Building, KEM Hospital Campus, Parel, Mumbai - 400 012, Maharashtra, India. E-mail: ajit5678@ 123456yahoo.com
                Article
                AJTS-12-62
                10.4103/ajts.AJTS_12_17
                5850700
                29563678
                5060b979-1790-4cfc-91d2-ef67eb65b1d0
                Copyright: © 2018 Asian Journal of Transfusion Science

                This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.

                History
                : 28 January 2017
                : 16 June 2017
                Categories
                Original Article

                Hematology
                abo blood group,india,molecular blood group genotyping,o alleles,polymerase chain reaction,single-strand conformation polymorphism

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