Exam review 1 - BIO 133 Introduction to Genetics Current...

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BIO 133 Jan 16, 2008 Introduction to Genetics Current Events: Autism is related to chromosome 16 Genes and Alleles Segment of DNA (Codes for protein) Allele variant of a gene Sickle Cell Anemia Caused by mutated gene codes for component of hemoglobin Defective hemoglobin Single Base substitution CTT-CAT DNA and RNA DNA - deoxyribonucleic acid o Double Stranded o ATGC RNA - ribonucleic acid o Single stranded o AUGC Chromosomes Long strand of DNA and protein Each chromosome has many genes Humans has 46 chromosomes Genome All genes of an organism Humans genome has 30,000 genes Corn has 30,000 genes C. Elegans has 10,000 genes Genotype and phenotype Genotype - An organisms alleles Phenotype - How these alleles are expressed CMT (Charlotte Marie Tooth) Autosomal Dominant condition Degeneration of the nerves from controlling muscular movement Karyotype - A visual representation of chromosomes. Can see the disfunction trisomy 21
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Mendelian traits Studies about a single gene Multifactorial Traits Traits caused by one or more genes and the environment Examples of these would be height, eye color, hypertension, breast cancer and diabetes Breast Cancer Genes BRCA1 and BRCA2 contributes to the development of breast cancer Non genetic factors- Diet, menopause, having a child after 30, alcohol use and radiation Genetic Risks Risk factor- Threatening situation Absolute risk- probability that someone will develop it Relative risk- Probability that someone will develop it compared to a population Bio 133 Jan 23, 2008 Cell Components and Macromolecules Proteins Prions- Proteins that are on a cell’s surface and they have the ability to be infectious Mad Coe disease Carbohydrates Simple Sugars (Glucose, Lactose, Fructose) Gives identity to Red Blood Cells (Type A, B, etc) Lipids Dietary Fats that provide protein Main components of cell membrane Nucleic Acid Genetic Material Energy source (DNA & RNA) Cell Organelles Modifications of these organelles can cause disease
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Nucleus Membrane enclosed space containing the DNA They have enzymes supporting the DNA It has pores Rough and Smooth Endoplasmic reticulum Rough- Site for protein synthesis Smooth- Detoxifies toxins
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