Panel of 140 genes effective in the detection of hereditary renal diseases



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By Gerard Kok

A new DNA research to determine if someone has hereditary kidney disease seems cheaper and as effective as the old method, according to a recent Spanish research . In addition, it is not very heavy for the person examined.

The "Sanger" method is the traditional method of research on DNA. The method is named after Frederick Sanger, winner of two Nobel Prizes and pioneer in research on DNA. In this method, the entire DNA is mapped by tracing all the nucleotides that make up the DNA one by one. However, this does not happen in the order, so that subsequently it must still be calculated correctly to reconstruct the complete DNA.

However, Spanish researchers used the 'Next Next Generation Sequencing', not just the entire DNA. have been reviewed (from where 'targeted'), and that in addition 'parallel' has arrived, making it faster than the Sanger method. Because it's not necessary to trace the entire DNA, it takes a lot less calculations in the end, which speeds up the procedure.

Of course, you must know what you are looking for, otherwise it will not work. The researchers were interested in about 100 genes involved in hereditary disorders of cysteine, and 50 involved in hereditary glomerular nephropathy, together representing 140 genes (there were a few doubles between them).

The research then focused on whether these 140 genes were good enough to detect hereditary kidney disease. Because not all of someone's DNA is examined, there is of course a chance that a diagnosis will be missed because the genes outside the 140 have mutated. It is important that this opportunity is not too high. As a result, researchers first tested their method in carriers of inherited kidney disease, whose genetic mutations were known with precision. This involved 116 people. With only one of them, the Spanish method could not reproduce the previous diagnosis, but a score of 115 out of 116 (99%) makes the method sufficiently effective.

In addition, researchers sought to see if the new method could diagnose that they had hereditary kidney disease. In a group of 305 individuals, 222 patients with mutations could be identified. At 15%, there was no clear diagnosis and 2% were found to be misdiagnosed, indicating that the method may actually indicate new cases.

The new method based on the targeted sequencing of the next generation of 140 genes as effective as the old but less expensive method ("profitable" as we call it so beautiful), and more not harmful for prospective patients to perform. A useful addition to existing ways to detect hereditary renal diseases

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Published: Thursday, 26-07-2018
Source: Kidney International | There are no comments yet




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