SBV Journal of Basic, Clinical and Applied Health Science

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VOLUME 3 , ISSUE 4 ( October-December, 2020 ) > List of Articles

Original Article

Identification of the Single Nucleotide Polymorphisms and their Frequency Present in the Targeted Region of POR Gene in South Indian Population

Rajalakshmi Kumar, Adithan Chandrasekaran, Ritushree Kukreti, Balanehru Subramanian

Keywords : Minor allele frequency, Polymorphism, POR gene, Single nucleotide polymorphism, South Indian

Citation Information : Kumar R, Chandrasekaran A, Kukreti R, Subramanian B. Identification of the Single Nucleotide Polymorphisms and their Frequency Present in the Targeted Region of POR Gene in South Indian Population. 2020; 3 (4):158-163.

DOI: 10.5005/jp-journals-10082-02269

License: CC BY-NC 4.0

Published Online: 09-02-2021

Copyright Statement:  Copyright © 2020; Jaypee Brothers Medical Publishers (P) Ltd.


Abstract

Background and objectives: Cytochrome P450 oxidoreductase (POR) gene act as an electron donor to other microsomal cytochrome P450 (CYP) enzymes. This study is attempted to identify the POR genetic variants present in the proximal promoter region, hotspot coding regions that affect the function of POR gene, and the 3′UTR region encompassing miRNA binding sites among the South Indian population. Materials and methods: Blood samples were collected from 110 south Indian subjects. Genomic DNA was isolated from whole blood and the target regions of the POR gene were amplified using specific primers. The PCR amplicons were sequenced by the Sanger method. The variants present in proximal promoter region, exons (9, 10, 11, and 12) with boundary regions around 100 bp region and 3′UTR region, were analyzed. The microRNA database (miRDB) prediction tool was used to analyze miRNA binding regions in the 3′UTR region. Results: The SNPs (rs72553971, rs41301394, rs41301400, rs4732514, rs2286822, rs2286823, rs41301427, and rs17685) were observed in the POR gene with frequency of 2.7, 31.36, 2.27, 57.27, 23.63, 23.63, 14.54, and 35%, respectively. All these SNPs were previously reported in other populations. No novel variation has been observed in the hotspot coding region of the POR gene among South Indian population. Conclusion: The frequency of POR gene polymorphisms is reported for the first time among the South Indian population. This study provides fundamental and useful information on POR pharmacogenetics among this population, which can be utilized for future research.


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