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Genetic differentiation and population structure of five ethnic groups of Punjab (North-West India)


The state of Punjab in the North-West part of India has acted as the main passage for all the major human invasions into the Indian subcontinent. It has resulted in the mixing of foreign gene pool into the local populations, which led to an extensive range of genetic diversity and has influenced the genetic structure of populations in Punjab, North-West India. The present study was conducted to examine the genetic structure, relationships, and extent of genetic differentiation in five Indo-European speaking ethnic groups of Punjab. A total of 1021 unrelated samples belonging to Banias, Brahmins, Jat Sikhs, Khatris, and Scheduled castes were analyzed for four human-specific Ins/Del polymorphic loci (ACE, APO, PLAT, and D1) and three restriction fragment length polymorphisms ESR (PvuII), LPL (PvuII), and T2 (MspI) using Polymerase chain reaction (PCR). All the loci were found to be polymorphic among the studied populations. The frequency of the Alu insertion at APO locus was observed to exhibit the highest value (82.6–96.3 %), whereas D1 exhibited the lowest (26.5–45.6 %) among all the ethnic groups. The average heterozygosity among the studied populations ranged from 0.3816 in Banias to 0.4163 in Khatris. The FST values ranged from 0.0418 to 0.0033 for the PLAT and LPL loci, respectively, with an average value being 0.0166. Phylogenetic analysis revealed that Banias and Khatris are genetically closest to each other. The Jat Sikhs are genetically close to Brahmins and are distant from the Banias. The Jat Sikhs, Banias, Brahmins, and Khatris are genetically very distant from the Scheduled castes. Overall, Uniform allele frequency distribution patterns, high average heterozygosity values, and a small degree of genetic differentiation in this study suggest a genetic proximity among the selected populations. A low level of genetic differentiation was observed in the studied population groups indicating that genetic drift might have been small or negligible in shaping the genetic structure of North-West Indian Populations.

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The financial assistance to Gagandeep Singh by UGC is acknowledged. Financial support from DBT through project Grant: BT/PR2722/Med/13/121/2001 (DBT, India) to Bhanwer AJS at Guru Nanak Dev University, Amritsar is also acknowledged.

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Correspondence to Kawaljit Matharoo or A. J. S. Bhanwer.

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The authors assert that all procedures contributing to this work comply with the ethical standards of the relevant national and institutional committees on human experimentation and with the Helsinki Declaration of 1975, as revised in 2008.

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Communicated by S. Hohmann.

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Singh, G., Talwar, I., Sharma, R. et al. Genetic differentiation and population structure of five ethnic groups of Punjab (North-West India). Mol Genet Genomics 291, 2055–2063 (2016). https://doi.org/10.1007/s00438-016-1239-3

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  • Alu Insertion/deletion
  • North-West India
  • Genetic diversity
  • Ethnic group
  • SNP