BIOD 210 Module 2 Study guide Mendelian Genetics (Portage learning)

Gametes Sex cells 2. Karyotype A display of the chromosome pairs of a cell arranged by size and shape. 3. Process for karyotyping Typically done by isolating white blood cells from a person, staining them, and taking pictures under a microscope. The picture is then cut to organize chromosomes, which are numbered by size 4. Cytogeneticist a scientist who studies chromosomes under the microscope 5. BRCA1 gene Breast cancer type 1 susceptibility gene. A human tumor suppressor gene that is produced in normal breast tissue and is responsible for DNA repair. 6. BRCA mutation A mutation within the protein itself renders itself unable to repair DNA. People who inherit this mutation have more than an 80% risk of developing breast or ovarian cancer in their lifetime 7. Protein functions -Act as structural components -Control cellular metabolism -Signaling 8. Hemoglobin A component of the blood that is critical for carrying oxygen from the lungs to the cells throughout the body 9. Components of hemoglobin Made up of two proteins that come from two separate genes: alpha-globulin and Beta-globulin. 10. cause of sickle cell anemia Mutant Beta-globulin protein causes the hemoglobin within red blood cells to distort when the oxygen in the blood is low and deforms the cell shape so much that the distorted cells break very easily 11. Anemia lack of a normal number of red blood cells