What does the HPRT gene do?
The HPRT1 gene provides instructions for producing an enzyme called hypoxanthine phosphoribosyltransferase 1. This enzyme allows cells to recycle purines, a type of building block of DNA and its chemical cousin RNA.
What happens when HGPRT gene is defective?
Role in disease Some men have partial (up to 20% less activity of the enzyme) HGPRT deficiency that causes high levels of uric acid in the blood, which leads to the development of gouty arthritis and the formation of uric acid stones in the urinary tract. This condition has been named the Kelley–Seegmiller syndrome.
Why HPRT is a housekeeping gene?
HPRT is a housekeeping enzyme involved in recycling guanine and inosine in the purine salvage pathway. As a housekeeping gene, HPRT has been widely used as an endogenous control for molecular studies evaluating changes in gene expression.
Why is HPRT used as a control?
How does BestKeeper work?
The BestKeeper algorithm calculates the stability of the candidate genes based on the SD of their Cq values, plus the coefficient of variance (CV), correlation coefficient (r), and the p-value (p) which are also very important parameters (Pfaffl et al., 2004).
What is HPRT deficiency?
Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymatic deficiency.
Why does uric acid accumulate in the absence of HGPRT?
HGPRT is the “salvage enzyme” for the purines: it channels hypoxanthine and guanine back into DNA synthesis. Failure of this enzyme has two results: Cell breakdown products cannot be reused, and are therefore degraded. This gives rise to increased uric acid, a purine breakdown product.
What is geNorm analysis?
geNorm is a popular algorithm to determine the most stable reference (housekeeping) genes from a set of tested candidate reference genes in a given sample panel. From this, a gene expression normalization factor can be calculated for each sample based on the geometric mean of a user-defined number of reference genes.
