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NURS 319 Exam 1
Chapter 3 - Genetic Basis of Disease
| Term | Definition |
|---|---|
| Gene | Fundamental unit of DNA |
| Epigenetic changes | Alterations to gene expression due to environmental stressors, behaviors, or lifestyle |
| Pharmacogenomics | Gene function in health, disease, and responses to medications |
| Genetics | The study of inherited traits |
| Genomics | The study of interaction of all genetic material (not just genes) |
| Exons | Portion of the genome that encodes proteins |
| Introns | Portion of the genome that does not code for protein |
| Codon | A set of three nucleotides that signal for a specific amino acid |
| Germ cell mutation | Mutation of gametes which can be spread to offspring |
| Somatic cell mutation | Mutation of body cells which cannot be spread to offspring |
| Gene nomenclature | The scientific naming of a disease based upon their cause or location |
| What is the short arm of a chromosome called? | p |
| What is the long arm of a chromosome called? | q |
| Human Karyotype | A picture of chromosome pairs |
| Transcription | RNA polymerase uses DNA template to make mRNA |
| Translation | mRNA travels to ribosome to be read by tRNA to make proteins (amino acids) |
| Enhancers | A transcription factor binding site that increases transcription rate |
| Silencers | A transcription factor binding site that inhibits transcription rates |
| Genotype | genetic code |
| Phenotype | The physical expression of genes |
| Allele | A gene inherited from one parent (comes in pairs with other allele) |
| Heterozygous | Alleles carry different traits |
| Homozygous | Alleles carry identical traits |
| Mendelian Inheritance | 1 copy of a gene is inherited from each parent (visualized through a Punnett square) |
| Sex-Linked Inheritance | When a mother who is the carrier of a disease on one of her X chromosomes passes her trait to a son, giving him the disease. |
| Hemophilia | A bleeding disorder in which no clots occur |
| Genetic pentrance | the ratio of people with phenotype compared to genotype |
| Genetic expressivity | The severity of one's genetic disorder (varies for a given condition) |
| Single-nucleotide polymorphisms (SNP's) | Changes in one nucleotide of a gene sequence |
| Complex (Multifactorial) Inheritance | The combination of 1 or more genes AND environmental triggers |
| Slow acetylator phenotype | When an individual has less of a specific enzyme that is necessary to metabolize certain medications |
| Proto-oncogenes | Normal genes that control cell proliferation |
| Oncogenes | Mutated proto-oncogenes that allows for uncontrolled cell proliferation |
| Oncoproteins | proteins produced by oncogenes that regulate the cell cycle |
| Tumor suppressor genes | Inhibit uncontrolled cell proliferation |
| p53 tumor suppressor gene | Stops mitosis |
| Aneuploidy | A change in the number of chromosomes |
| Translocation | When a piece of a chromosome breaks off and joins another |
| Deletion | When a piece of a chromosome is broken off and lost |
| Familial Hypercholesterolemia | A rare autosomal dominant disorder in which the liver lacks LDL receptors, resulting in high LDL levels |
| Marfan's Syndrome | An autosomal dominant, connective tissue disorder that results from a mutation in the Fibrilin-1 gene on chromosome 15 |
| Aortic dissection | Aorta breaks apart (almost instant death) |
| Kyphoscoliosis | S-shaped spine (scoliosis) presented with hunching at the shoulders |
| Turner Syndrome | A rare genetic disorder that results in a female baby being born with only one X chromosome |
| Fragile X syndrome | A disorder of the X chromosome due to long repetitions in genetic code at Xq27.3 resulting in familial mental retardation (FMR) and some autistic behaviors. |
| Down Syndrome | Also known as Trisomy 21, the most common chromosomal disorder in which a baby is born with an extra chromosome |
Created by:
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