Genomics Flashcards
What is the study of genes and their role in inheritance called?
Genetics
Genetics determines how traits or conditions are passed down through genes, impacting health and disease.
What does genomics study?
All a person’s genes (the genome) and their interactions with each other and the environment
Genomics often examines complex diseases caused by a combination of genetic and environmental factors.
What is a genetic mutation?
A change in the usual DNA sequence, which can be inherited or acquired
Mutations can range from a single DNA base to large segments of chromosomes.
What are germline mutations?
Mutations that pass from parent to child, present in oocyte and sperm cells
Germline mutations are present throughout a person’s life in virtually every cell.
What are acquired (somatic) mutations?
Mutations that occur in the DNA of a cell during a person’s life and are not passed to the next generation
They can result from mistakes during DNA replication or environmental factors.
What characterizes autosomal dominant inheritance?
Caused by a mutation of a single gene pair (heterozygous) on a chromosome
A dominant allele prevails over a normal allele.
What is autosomal recessive inheritance?
Caused by mutations of 2 gene pairs (homozygous) on a chromosome
A person with one recessive allele is a carrier and does not develop the disease.
What defines X-linked recessive disorders?
Caused by a mutation on the X chromosome, severely affecting men
Women can carry the mutated gene and transmit it to offspring.
What does epigenetics study?
Inheritable changes in gene expression that do not involve changes in the DNA sequence.
What is heterozygous?
Having 2 different alleles for 1 given gene.
What is homozygous?
Having 2 identical alleles for 1 given gene.
Define chromosome.
Microscopic structures in the cell nucleus composed of chromatin, containing genetic information
Each cell normally has 46 chromosomes in 23 pairs.
What is an autosome?
A chromosome other than X or Y.
What is a locus?
The position of a gene on a chromosome.
What is an allele?
One of a series of alternative forms at a specific locus of a chromosome.
What is a gene?
Functional unit of heredity that encodes for a specific functional product, such as RNA.
What is genotype?
The genetic identity of a person, comprised of the entire complex of genes inherited from both parents.
What is phenotype?
Observable characteristics of a person, measured categorically or quantitatively.
What is the role of DNA?
Stores genetic information and encodes instructions for producing specific proteins needed to maintain life.
What does pharmacogenomics study?
Variability of drug metabolism in relation to variations in multiple genes or the person’s genome.
What is pharmacogenetics?
Study of variability of drug metabolism related to variations in single genes.
What are the three causes of genetic disorders?
- Mutation in 1 gene (single gene disorder)
- Mutations in multiple genes (multifactorial inheritance disorder)
- Damage to chromosomes (changes in number or structure)
What does a positive genetic test result indicate?
Laboratory found a change that may confirm a diagnosis, show carrier status, identify increased risk, or suggest further testing.
What does a negative genetic test result indicate?
Laboratory did not find an altered form of the gene, chromosome, or protein under consideration.
What is predictive genetic testing used for?
To identify mutations that increase risk for developing certain disorders.
What is diagnostic genetic testing used for?
To diagnose, rule out, or confirm a specific genetic or chromosomal condition.
What is hemophilia?
An X-linked recessive disorder caused by a mutation on the X chromosome.
What is DNA fingerprinting?
Extracting DNA from cells in a sample to identify genetic information.
What is the purpose of polymerase chain reaction (PCR)?
To provide unlimited copies of a DNA or RNA sequence using a small sample.
What does a DNA microarray do?
Identifies changes in gene sequences or if certain genes are turned off in cells and tissues.
What is a Genome-Wide Association Study (GWAS)?
An approach that scans complete sets of DNA to find genetic variations associated with disease.
What is gene therapy?
An experimental technique to treat the underlying cause of a disease.
What are stem cells?
Unspecialized cells that can remain unspecialized or differentiate into specialized cells.
What are the types of stem cells?
- Totipotent
- Pluripotent
- Multipotent
- Unipotent
What should nurses understand about genetics and genomics?
The influence of genetics on health and illness.
What is cystic fibrosis?
A condition where mucus produced by exocrine glands is abnormally thick, causing obstruction.
What is the etiology of cystic fibrosis?
Autosomal recessive trait requiring both parents to carry the gene.
What are common respiratory manifestations of cystic fibrosis?
- Wheezing
- Dry cough
- Chronic bacterial infections
What are digestive system manifestations of cystic fibrosis?
- Steatorrhea
- Malnutrition and growth failure
- Deficiencies in fat-soluble vitamins
What is the therapeutic management goal for cystic fibrosis?
To relieve airway obstruction, decrease bacteria, and treat infections.
What medications are important for cystic fibrosis patients?
- Mucolytics
- Bronchodilators
- CFTR potentiators
- Pancreatic enzymes
What vitamin supplementation is required for cystic fibrosis patients?
- Vitamins A
- Vitamins D
- Vitamins E
- Vitamins K
