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NURS 319 Exam 1
Chapter 3 - Genetic Basis of Disease Questions
| Question | Answer |
|---|---|
| Focusing on fixing disease at the genetic level is also known as ____________________. | pharmacogenomics |
| What are the components of a nucleotide? | Pentose sugar, phosphate, purine or pyrimidine nitrogen base |
| What are the four nitrogen bases of DNA? | adenine, thymine, guanine, and cytosine |
| What replaces thymine in RNA? | uracil |
| Genetic mutations are either __________ or occur ______________. | inherited, sporadically |
| What is the gene locus? | the chromosome number, arm, and region |
| How many pairs of chromosomes do humans have? | 23 pairs |
| The last pair of chromosomes are known as the _____ chromosomes. | sex |
| What are the purpose of spliceosomes in transcription? | Spliceosomes excise introns |
| Where do transcription and translation take place? | Transcription takes place in the nucleus and translation takes place in the ribosome. |
| What are amino acids linked by? | peptide bonds |
| What is the purpose of enhancers and silencers as transcription factors? | Enhancers and silencers help regulate gene expression and varies between different types of cells |
| A dominant trait only needs ___ allele(s) for expression. | 1 |
| What is required for the expression of a recessive trait? | Both recessive alleles are needed (rr) |
| How does someone become a carrier? | They are heterozygous for recessive trait |
| Why are Sex-Linked Inheritance disorders so common in men? | The inherited allele on the X chromosome will always be expressed no matter if it is dominant or recessive because men only have one X chromosome. |
| Which sex chromosome is the larger one? | X chromosome --> carries more genes |
| What does it mean if a disease has a high genetic penetrance? | There is a higher chance for individuals with the gene to end up developing the disease |
| In the case of a Complex (Multifactorial) Inheritance, what triggers the beginning of disease? | Environmental triggers trigger the disease while the inheritance of the gene puts one at risk for the disorder |
| What does mitochondrial DNA lack that nuclear DNA has? | the ability to repair its DNA |
| What is a way of personalizing medicine for patients by looking at the interactions between their genetics and medications? | Pharmacogenomics |
| What does it mean if someone has less of a certain enzyme that is necessary for metabolizing certain medications? | That person has a slow acetylator phenotype |
| What medication can have varied responses in certain people based on two specific genes? | Warfarin (Coumadin) |
| What are proto-oncogenes? | Normal genes that control cell proliferation |
| A mutation of a proto-oncogene leads to the activation of what? | Oncogenes |
| What do oncogenes do? | They enable uncontrolled cell proliferation |
| Besides mutation, how else can the development of oncogenes occur? | Viral insertion |
| What common virus can trigger oncogenes and lead to cancer? | human papillomavirus |
| What regulates the cell cycle and is produced from oncogenes? | Oncoproteins |
| Defects in ___________ and _______________ increase cancer risk. | oncogene, oncoproteins |
| What specifically prevents uncontrolled cell proliferation from happening? | tumor suppressor genes |
| What specific gene stops mitosis from occuring? | p53 tumor suppressor gene |
| What leads to uncontrolled cell growth? | A p53 mutation |
| What causes aneuploidy? | Anaphase lag |
| Where is the gene for familial hypercholesterolemia located? | Short arm (p) on chromosome 19 |
| Why is familial hypercholesterolemia so dangerous? | It leads to early development of atherosclerosis due to elevated LDL levels in the blood |
| Which form of familial hypercholesterolemia is more severe? | the homozygous form |
| A mutation on what gene (and what chromosome) causes Marfan's Syndrome? | Fibrillin-1 gene on chromosome 15 |
| What does damage to fibrillin cause throughout the body? | It causes damage to microfibrils which then affects the structural components of the aorta, heart valves, lungs, and dura mater. |
| Which is an aortic dissection? | when the aorta splits or breaks apart (typically always fatal) |
| What is the average lifespan for someone with untreated Marfan's Syndrome? | 30 to 40 years |
| What is kyphoscoliosis? | A form of scoliosis that causes hunching at the shoulders |
| What is one key sign of Marfan's Syndrome? | Ligament hypermobility |
| What is the name of the disease where an individual is born with a missing X chromosome? | Turner Syndrome |
| What is amenorrhea? | The absence of a menstrual period |
| Where does Fragile X syndrome occur? | Xq27.3 |
| What causes Fragile X Syndrome? | long repeating sequences of CGG |
| Fragile X Syndrome can cause what form of cognitive impairment? | Familial mental retardation (FMR) |
| What type of behaviors can Fragile X Syndrome cause? | Autistic-like behaviors |
| What is the most common chromosomal disorder? (both names) | Down Syndrome or Trisomy 21 |
| What is the typical of IQ for someone living with Down Syndrome? | 25 to 50 |
| What is the typical life expectancy of someone with Down Syndrome? | around 47 years |
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