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Arab-Indian −530 β-distal promoter haplotype and sickle/Hb D heterozygosis in Badagas of Nilgiris: is it suggestive of Harappan origin?

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Abstract

Origin and ancestry of the Badagas of Nilgiris, an indigenous community of Nilgiris, Tamil Nadu in India, is a controversial topic. During our massive screening for haemoglobinopathies among Badagas, we identified a rare south Indian haemoglobin variant, the haemoglobin D (Hb D) Punjab (HBB: c.364G > C; rs33946267). The observed Hb D cases were double heterozygous with sickle cell trait (HbSD‐Punjab) and manifested symptoms. The beta-globin distal promoter motif (-530 cap site BP1U) sequencing revealed a characteristic heterozygous combination of Arab-Indian sickle haplotype ((AT)9 (T)5) with universally common beta gene haplotype ((AT)7 (T)7). The report is a pioneer one informing the presence of Hb–D Punjab from an indigenous or aboriginal group of southern India. By the above information, we support the theory of unicentric tribal origin and distribution during Harappan civilization.

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Acknowledgments

The authors are deeply indebted to Vijayraj Hospital, Ooty; Rukmini Clinic, Ooty; Dr R. Radha, NGOs, and community leaders for extending help for blood sample collection. The authors also acknowledge TNSCST, Chennai, for the financial support (TNSCST/STP/MS/VR2009-2010). We express gratitude to the Institutional Human Ethical Committee of GAC, Ooty for their clearance via order Rc. No. 02/IHEC/2015 dt 29-10-2015.

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Authors and Affiliations

  1. Molecular Biodiversity Lab, Department of Zoology and Wildlife Biology, Government Arts College, Udhagamandalam, 643 002, India

    Rajan Archana, Chinnasamy Vidya, Nallathambi Sumithra & Raveendranathanpillai Sanil

  2. Department of Zoology, Providence College for Women, Spring Field P.O., Coonoor, 643 104, India

    Manikkiri Jyothi

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  1. Rajan Archana
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  2. Chinnasamy Vidya
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  3. Nallathambi Sumithra
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  4. Manikkiri Jyothi
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  5. Raveendranathanpillai Sanil
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Correspondence to Raveendranathanpillai Sanil.

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Corresponding editor: Shrish Tiwari

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Archana, R., Vidya, C., Sumithra, N. et al. Arab-Indian −530 β-distal promoter haplotype and sickle/Hb D heterozygosis in Badagas of Nilgiris: is it suggestive of Harappan origin?. J Genet 101, 17 (2022). https://doi.org/10.1007/s12041-021-01348-5

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