Diagnostic Process Genetic

Gene probes are used to locate particular segments of normal or mutant DNA. Different types of probes can examine a wide range of sizes of the DNA sequence. A known DNA segment may be cloned and then fluorescently labeled (using fluorescence in situ hybridization [FISH]). This segment is then combined with the DNA sample. The labeled DNA binds to the complementary DNA segment and can be detected by measuring the type and amount of fluorescence. Gene probes can detect before and after the birth of a number of disorders.

The diagnostic genetic methods are constantly being improved. DNA or RNA may be amplified using PCR to be produced with many copies of a gene or gene segment. Gene probes are used to locate particular segments of normal or mutant DNA. Different types of probes can examine a wide range of sizes of the DNA sequence. A known DNA segment may be cloned and then fluorescently labeled (using fluorescence in situ hybridization [FISH]). This segment is then combined with the DNA sample. The labeled DNA binds to the complementary DNA segment and can be detected by measuring the type and amount of fluorescence. Gene probes can detect before and after the birth of a number of disorders. Oligonucleotide arrays (probes) are another type of probe, which are now routinely used to identify deleted or duplicated regions of the DNA sequence in specific chromosomes on a genome-wide basis. The DNA of a patient is compared to a reference genome using many oligonucleotide probes. By using such probes the entire genome can be tested (checked). Microchips are powerful new tools that can be used to identify DNA mutations, pieces of RNA or proteins. A chip can recognize millions of different DNA changes based on a single sample. Microchips provide a finer resolution to genomic queries as oligonucleotide arrays. “Next-generation sequencing” technologies provide the highest level of resolution, but many still unresolved analytical and computational challenges (eg. As how the results should be interpreted, especially for complex, multigenic disorders). The “next generation sequencing” is part of the breaking of the entire genome into small segments and then the gradual sequence analysis of some or all segments, depending on whether a subset of genes or the genome is the target of interest. The segment results are analyzed (using intensive processing power) to provide a composite result of the sum of all the associated small segments. Single nucleotide variants can also be identified, just as very short segments that have been inserted or deleted. Some of these variants may be diagnostic of genetic diseases.

Health Life Media Team

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