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Genetic testing

Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through to measure specific protein output.

Genetic disorderGenetic disorderA genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome.DNA paternity testingDNA paternity testingDNA paternity testing uses DNA profiles to determine whether an individual is the biological parent of another individual. Paternity testing can be essential when the rights and duties of the father are in issue, and a child's paternity is in doubt. Tests can also determine the likelihood of someone being a biological grandparent.Predictive medicinePredictive medicinePredictive medicine is a field of medicine that entails predicting the probability of disease and instituting preventive measures in order to either prevent the disease altogether or significantly decrease its impact upon the patient (such as by preventing mortality or limiting morbidity). While different prediction methodologies exist, such as genomics, proteomics, and cytomics, the most fundamental way to predict future disease is based on genetics.Down syndromeDown syndromeGenetic disorderMedical conditionDown syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features. The parents of the affected individual are usually genetically normal.Turner syndromeTurner syndromeX chromosome monosomyMedical conditionTurner syndrome (TS), commonly known as 45,X, or 45,X0, is a chromosomal disorder in which cells of females have only one X chromosome instead of two, or are partially missing an X chromosome (sex chromosomemonosomy) leading to the complete or partial deletion of the (PAR1, PAR2) in the affected X chromosome (these are called pseudoautosomal regions). Humans typically have two sex chromosomes, XX for females or XY for males.Genetic diversityGenetic diversityGenetic diversity is the total number of genetic characteristics in the genetic makeup of a species. It ranges widely, from the number of species to differences within species, and can be correlated to the span of survival for a species. It is distinguished from genetic variability, which describes the tendency of genetic characteristics to vary. Genetic diversity serves as a way for populations to adapt to changing environments.ChromosomeChromosomeDNA molecule containing genetic material of a cellDifferent representations of chromosomesMain parts of a condensed chromosomeCondensed chromosome (purple rod) inside a bone marrow erythrokaryocyte undergoing mitosisDiagram of a duplicated and condensed metaphase eukaryotic chromosome: ChromatidCentromereShort armLong armA chromosome is a package of DNA containing part or all of the genetic material of an organism.ProteinProteinBiomolecule consisting of chains of amino acid residuesA representation of the 3D structure of the protein myoglobin showing turquoise α-helices. This protein was the first to have its structure solved by X-ray crystallography. Toward the right-center among the coils, a prosthetic group called a heme group (shown in gray) with a bound oxygen molecule (red).Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acidresidues.RNARNAFamily of large biological moleculesA hairpin loop from a pre-mRNA. Highlighted are the nucleobases (green) and the ribose-phosphate backbone (blue). This is a single strand of RNA that folds back upon itself. Ribonucleic acid (RNA) is a polymeric molecule that is essential for most biological functions, either by performing the function itself (non-coding RNA) or by forming a template for the production of proteins (messenger RNA).Selective breedingSelective breedingSelective breeding (also called artificial selection) is the process by which humans use animal breeding and plant breeding to selectively develop particular phenotypic traits (characteristics) by choosing which typically animal or plant males and females will sexually reproduce and have offspring together. Domesticated animals are known as breeds, normally bred by a professional breeder, while domesticated plants are known as varieties, cultigens, cultivars, or breeds.Gene expressionGene expressionConversion of a gene's sequence into a mature gene product or productsFlowchart of gene expression.Gene expression is the process by which the information contained within a gene is used to produce a functional gene product, such as a protein or a functional RNA molecule. This process involves multiple steps, including the transcription of the gene's sequence into RNA.ParentParentA parent is either the progenitor of an offspring, or in humans, it can refer to a caregiver or legal guardian, generally called an adoptive parent or step-parent. Parents are first-degree relatives and share 50% of their genes. A female can also become a parent through surrogacy. Some parents may be adoptive parents, who nurture and raise an offspring, but are not related to the child.Nucleic acid sequenceNucleic acid sequenceA nucleic acid sequence is a succession of bases within the nucleotides forming alleles within a DNA (using GACT) or RNA (GACU) molecule. This succession is denoted by a series of a set of five different letters that indicate the order of the nucleotides. By convention, sequences are usually presented from the 5' end to the 3' end. For DNA, with its double helix, there are two possible directions for the notated sequence; of these two, the sense strand is used.

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