Essay About Genetic Disease And Brca1

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Science Year 10 Course Assessment Task No.3                                 Identify 3 types of genetic testing and outline what they are used forINS: is used for finding out the following disorders : Hyperproinsulinemia, familial, with or without diabetes Maturity-onset diabetes of the young, type 10,  Diabetes mellitus, permanent neonatal,  Diabetes mellitus, type 1, Diabetes mellitus, insulin-dependent, 2, KIT: is used for variations in the gene/locus can be associated with following disorders:Piebaldism (3) Mast cell leukemia (3) Mastocytosis with associatedhematologic disorder (3) Germ cell tumors,  Gastrointestinal stromal tumor, somatic,  Leukemia, acute myeloid,  MT-ATP6: is used for variations in the gene/locus can be associated with following disorders:LEIGH SYNDROME,  STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL,  BILATERAL STRIATAL NECROSIS, INFANTILE, MITOCHONDRIAL,  INFANTILE BILATERAL STRIATAL NECROSIS, MITOCHONDRIAL,  NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA,  NARP SYNDROME,  ATAXIA AND POLYNEUROPATHY, ADULT-ONSET b) Using the information given below, create a flow chart to describe the steps involved in the process in genetic testing.[pic 1][pic 2][pic 3][pic 4][pic 5][pic 6][pic 7][pic 8]Explain what a genetic mutation is and compare inherited genetic disease and a disease caused by a mutagen giving one example of each disease.A genetic mutation is any spontaneous change in a gene that may produce an alteration in the related characteristic. During the DNA replication, random error can cause mutation. The effect of mutation includes tumours in our body that may develop into a cancer and seedless and disease resistant plants. Inherited genetic disease Disease caused by a mutagenAny disease or condition that is genetically determined and involves a multifactorial inheritance. When mutagen mutates the gene opening up possibilities for diseases related to abnormal characteristics.One example is familial combined hyperlipidemia and this disorder is high cholesterol and high blood triglycerides that is inherited, which means it is passed down through families.Radiation is a mutagen and diseases such as leukemia(cancer of the blood).Describe what BRCA1 and BRCA2 are and their effects on humans.BRCA1 and BRCA2 are human genes that belong to a class of genes known as tumor suppressors. Mutation of these genes has been linked to hereditary breast and ovarian cancer. A woman`s risk of developing breast and ovarian cancer is greatly increased if she inherits a deleterious BRCA1 or BRCA2 mutation. Men with these mutations also have a chance of getting a breast cancer. Both men and women who have BRCA1 or BRCA2 mutations can have a great chance of getting other cancers.