George Washington University

Types of Genetic Disorders - Answer - Single Gene - Chromosomal - Mitochondrial - Multi-factorial Examples of Single Gene Disorders - Answer - Cystic Fibrosis - Sickle Cell Disease - Hemophilia Examples of Chromosomal Disorders - Answer Aneuploidy - Abnormal chromosome number (too many/few) - MOST common abnormality Down Syndrome - AKA Trisomy 21 - Extra copy of chromosome 21 (3 of them) Turner Syndrome Examples of Mitochondrial Disorders - Answer - Maternal ...

The central dogma of molecular biology - Answer transcription and translation How many genes in the human genome? - Answer ~25,000 genes How many hydrogen bonds between Adenine & Thymine? - Answer 2 How many hydrogen bonds between Cytosine & Guanine? - Answer 3 What is a promotor? - Answer nucleotide sequence that lies just upstream of a gene. RNA polymerase II binds to a promotor site on DNA to initiate transcription. Plays an important role in initiating gene express...

Alkaptonuria, symptoms - Answer Results in abnormal pigmentation and debilitating arthritis due to a loss-of-function mutation Alkaptonuria caused by - Answer homogentisic acid (HGA) which is an intermediate metabolite in phenylalanine and tyrosine metabolism is found in large quantities in urine which turns urine black in the presence of light Oxidation product of HGA is directly deposited in connective tissues Trisomy 13 (Patau Syndrome) mechanism - Answer An error in cell divis...

A nurse is constructing a pedigree of a patient and family to establish a patient's risk for possible genetic disorders. The nurse demonstrates understanding of this process by obtaining information going back at least how many generations? - Answer 3 The nurse is working with a 34-year-old client diagnosed with hypercholesterolemia. The client's father died from cardiovascular disease at age 50. When discussing the client's care with the genetic specialists, the nurse uses which ...

A father and mother are carriers of phenylketonuria (PKU). Their 2-year-old daughter has the condition. The couple tells the nurse that they are having a second baby. Because their daughter has PKU, they are certain that this baby will not be affected. Which response by the nurse is the most accurate? a."Good planning. You need to take advantage of the odds that are in your favor." b."I think you'd better first check with your physician." c."You are both carriers; therefore,...

A 35-year-old pregnant patient expresses concern to the nurse about the potential for cystic fibrosis in her children. What is the most appropriate nursing intervention? 1 Tell her that she needs to discuss the issue with a genetic counselor. 2 Inform her about the at-home genetic test kits available in the market. 3 Explain to her how to take the sample and mail it back to the laboratory. 4 Educate her on how to read and interpret the results of the genetic test. - Answer The nurse shoul...

describe the major features of the clean water act (eg NPDES) and the safe drinking water act (eg MCL, MCLG) - Answer MCLG- maximum contaminant level goal- level at which there would be no adverse effect. Does not take into account cost of technical feasibility. MCL- maximum contaminant level - can be adverse effects, takes cost etc into account NPDES - national pollutant discharge elimination system, permitting system under CWA for nutrients and other toxins from point sources hydro...

Solar energy - Answer the primary power source that creates fossil fuels→ drives life on earth life cycle - Answer solar energy-->primary producers photosynthesize, herbivores consume primary producers--> carnivores, secondary carnivores→ detritivores consume decaying matter petroleum - Answer fossil fuel we use the most - 36%, oil sandwich - Answer layer of carbon/sand/silt/plankton biomass on top and bottom Canadian Tar Sands - Answer oily sand is scooped i...

Understand the major function of cells - Answer Cell differentiation: in bone marrow, adult stem cell can reproduce and splits to either myeloid or lymphoid progenitor, which can then differentiate into many kinds of cells Homeostasis and cell injury: many adverse biological effects occur when cells are damaged, damage can be to any part of the cell, causes can be infectious agents, oxygen deprivation, trauma, chemicals, nutritional imbalances Apoptosis vs. Necrosis - Answer Apoptosi...

Protein Synthesis - Answer DNA to mRNA via Transcription in the nucleus of the cell. RNA to protein via translation in the ribosomes. tRNA brings amino acids to the ribosomes in the correct sequence Mutagens - Answer pollutants in the environment that enter the body and directly change your DNA sequence Gene-gene interactions - Answer Pollutants that affect the functioning of one gene that directly affect the functioning of another gene Polymorphisms - Answer variation in D...