Abstract
Human genetic variation is quite common with single nucleotide polymorphisms (SNPs) accounting for the majority of the variants. In the present study, primers for amplification of the appropriate part of the human GPX1 gene by polymerase chain reaction (PCR) were designed. The aim of this study was to develop a restriction fragment length polymorphism (RFLP) assay to detect and characterize GPX1 polymorphism in the coding region and validate the assays by sequencing. This study demonstrated that the RFLP method, which can be rapid, is reliable and valid as a tool for identifying the different polymorphisms with a high degree of specificity and sensitivity.
Highlights
GPX1 was the first GPX to be discovered[1] and is known as classical GPX, cytosolic GPX or GPX1
Sequence analysis shows ApaI site at the site of single nucleotide polymorphism (SNP), this could potentially be used in restriction fragment length polymorphism (RFLP) analysis
This study demonstrated that the RFLP method was rapid, and reliable and valid as a tool for identifying the different polymorphisms with high degree of specificity
Summary
GPX1 was the first GPX to be discovered[1] and is known as classical GPX, cytosolic GPX or GPX1. It has a wide distribution in animal cells and is present in the cystosol.[1,2,3] It is reported that high levels of GPX present in different tissues such as RBC, placenta, lung, liver and kidney which parallels oxidative stress metabolism.[4,5,6]. O. BOX: 6666-Buraidah: 51452, Saudi Arabia and Department of Nursing, Princess Aisha Bint Al-Hussein Faculty of Nursing, Al-Hussein bin Talal University, Ma’an, Jordan
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