Biochemical genetic testing by Gilda Reynolds https://padlet.com/greynolds4/z0uwip711nbi There are several types of genetic testing, as genetic engineers your job is to explore genetic testing using biochemical genetic testing. Use your textbook, internet and links provided to find out detailed information on biochemical genetic testing and describe how the process is done. Your research should include the following information 1. A detailed explanation on how would you test the gene with an example. 2. Limitations of biochemical genetic testing when used for genetic testing. 3.How is it different from karyotyping or cytogenetic testing. en-us 2017-10-15 21:35:00 UTC 2017-10-17 23:29:15 UTC hello@padlet.com greynolds4 https://padlet.com/greynolds4/z0uwip711nbi/wish/197649641 http://www.metbio.net/docs/metbio-bmsresource-reha941961-16-06-2011.pdf]]> 2017-10-17 05:48:21 UTC https://padlet.com/greynolds4/z0uwip711nbi/wish/197649641 Biochemical genetic testing involves diagnosing and treating metabolic diseases. These tests measures the amount or activity of a particular enzyme or protein in a sample of blood or urine or other tissue from the body. Any abnormalities in the activity level of these proteins is an indicator of changes to the DNA due to the presence of a genetic disorder such as birth defects and inherited metabolic disorders known as "inborn errors of metabolism.” Biochemical tests may be used when the specific gene defect has not been identified, or when there are several possible causes of the disease, for example, different mutations in one or more genes. For example, a genetic disease called mucopolysaccharidosis I (MPS I) is caused by an enzyme deficiency that results in an accumulation of molecules called glycosaminoglycans (GAGs) within the lysosomes of cells. If GAGs are not broken down by the enzyme when entering the cells they accumulate in the cells and cause permanent cell damage that progressively hinders the physical development. MPS I can cause skeletal deformities, coarse facial features, enlarged liver and spleen and mental retardation. If a person is suspected off having MPS I, biochemical testing can be done to determine if there is evidence of the enzyme deficiency associated with the disorder. https://padlet.com/greynolds4/z0uwip711nbi/wish/198051708 2017-10-17 23:27:32 UTC https://padlet.com/greynolds4/z0uwip711nbi/wish/198051708 Cytogenetic testing is utilised to detect numerical and/or structural chromosome abnormalities in metaphase cell. Karyotyping testing identifies and evaluates the size shape and number of chromosomes in a sample body of cells (extra or missing or abnormal positions). Where as biochemical testing studies the amount or activity level of certain proteins. https://padlet.com/greynolds4/z0uwip711nbi/wish/198051792 2017-10-17 23:28:16 UTC https://padlet.com/greynolds4/z0uwip711nbi/wish/198051792 In order to conduct biochemical genetic testing, they must obtain the person’s consent, or a parent/guardian’s consent of the person is under 18. The test procedures used to perform biochemical genetic tests are generally complex and technically demanding in which the expenses of doing this form of genetic testing is very costly. However, some genetic tests are also not able to identify all the possible gene mutations that can cause a particular condition or they have limited predictive value of the outcome. A biochemical test may not be possible for a specific disease because the in vitro assay results do not reflect the in vivo conditions, meaning that the results of the test can possibly have some variation. Some factors that can affect the results of the test include that the normal and carrier levels of the enzyme/substrate often overlap.The enzyme or substrate may be unstable and would not survive shipment. The tissue needed for the assay may be difficult to obtain and/or easily contaminated. Due to this, tests may require the need to make tough decisions without full information of the condition. https://padlet.com/greynolds4/z0uwip711nbi/wish/198051860 2017-10-17 23:28:53 UTC https://padlet.com/greynolds4/z0uwip711nbi/wish/198051860