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NURS 319: Genetics
Chapter 3 Genetics
| Question | Answer |
|---|---|
| genome | map of all of an individual's genes |
| epigenetics | study of changes caused by modification of gene expression |
| pharmacogenomics | individual's genetics impact likely response to medications |
| gene | trait |
| genotype | genetic makeup of cell/ person/ organism |
| exons | DNA sequences that encode proteins |
| introns | non-coding DNA sequences |
| codon | three base pairs code for an amino acid |
| DNA | deoxyribonucleic acid, human biological makeup |
| RNA: what is mRNA and tRNA and what is their function? | mRNA: messenger, carries codes from DNA from nucleus to ribosome tRNA: transfer, brings amino acids to mRNA |
| Genetic mutations | changes in sequence of DNA |
| Who receives germ cell mutations? | offspring |
| In somatic cells, are mutations passed to offspring? | no |
| What are the 4 nitrogenous bases found in a strand of DNA? How do they pair with each other? | A,T,C,G A-T, C-G |
| What nitrogenous bases are changed in RNA? | Thymine replaced with uracil |
| What is a gene locus and its parts? | locus: location on the chromosome, p-short & q- long arm |
| The karyotype is a picture of _______ _________. There are ____ pairs of chromosomes. The first 22 are ______ and the last pair identifies the _______of a person. | individual's chromosomes 23, autosomal; sex |
| A male has ___ chromosomes and a female has ___ chromosomes | XY; XX |
| The _ chromosome is dominant because it is bigger and there are _ of them. | X; 2 |
| Transcription is | DNA to RNA |
| Translation is | RNA to protein |
| An _____ _______ is a gene that is inherited from one parent. An example is the gene for red hair. | autosomal dominant |
| The ________ is the gene code a person inherits from their parents. The physical expression of the gene is the _______. | genotype; phenotype |
| In Trisomy 21, trisomy 21 is the ______ and the severity of the disease is the _______. | genotype; phenotype |
| Homozygous genes mean the alleles have the _____ traits. | same |
| Heterozygous means they carry _______ traits. | different |
| A ________ trait means that trait will be expressed and only means that the person needs only _ allele to be dominant. | dominant; 1 |
| A ________ trait means that the person needs _ allele from each parent for the person to exhibit the trait. | recessive; 1 |
| If there;s only 1 recessive gene, that person is a | carrier |
| When a dominant gene is mapped out on the Punnett Square, they have a ___ chance of the trait being homozygous dominant, a 50% chance the trait will be ________ dominant, and a __ chance the recessive trait will be dominant. | 50%, heterozygous, 25% |
| For autosomal recessive traits, the person will have a __ chance of having the disease, __ of neither having or carrying the disease, and a __ chance of being a carrier. | 25%, 75%, 50% |
| Sex-linked or X-linked diseases are problems on the ___ chromosome. | 23rd |
| Because the female has 2x chromosomes, the _____ is the carrier and the ____ will exhibit the disease | female; male |
| Ratio of people with phenotype compared to genotype | genetic penetrance |
| related to the severity of a genetic disorder | genetic expressivity |
| a disorder or illness that occurs from a combination of 1 or more genes plus environmental triggers | complex or multifactorial inheritance |
| Which parent passes down mitochondrial disorders? Why do mitochondrial disorders cause neurodegenerative diseases or problems with heart tissues? | Mothers; mitochondria are responsible for energy supply |
| A ________ is a normal cell that helps to control cell proliferation. if it mutates, it activates an ______ which enables uncontrolled cell proliferation or cancer. | proto-oncogene; oncogene |
| The _____ is coded by the oncogene to cause the transformation of a cell into a cancer cell. | oncoprotein |
| A ______ _______ ________ functions by inhibiting uncontrolled cell proliferation which suppresses tumor growth. | tumor suppressor gene |
| 3 types of chromosomal alterations and their definitions | Aneuploidy: different number of chromosomes Translocation: piece of chromosome breaking and joining another Deletion: piece of chromosome broken off and lost |
| What type of disorder is Familial Hypercholesterolemia? What is the pathophysiology? What disease processes does having high lipids (cholesterol and LDL) in the blood put the person at risk for? | autosomal dominant; liver cannot do LDL takeup; coronary artery disease |
| Describe the pathophysiology of Marfan's Syndrome. What are the symptoms a patient may experience? | structural compounds not fully developed- elasticity kyphoscoliosis, heart murmur, tall stature |
| Describe Turner syndrome pathophysiology. Who do we see it in and why? | missing X chromosome females because they have two X chromosomes |
| Describe the pathophysiology of Fragile X syndrome. What are the main signs and symptoms? | CGG repeat on X chromosome; cognitive impairment, autistic like behaviors |
| Describe the pathophysiology of Trisomy 21. What are the key characteristics of the syndrome? | 3 chromosomes on spot 21 squished face, low IQ, old age dementia, lowered immune system, heart defects |
Created by:
lcorlew1
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