Unit 4 Genetics Flashcards
Define genetics
Study of individual genes and their impact on relatively rare single gene disorders
Define genomics
Study of all genes, including their interactions w/ each other, the environment, and the influence of other psychosocial and cultural factors
Most genes code for — the body needs.
Proteins
What is a Karyotype
The ordered display of chromosomes
How many pairs of chromosomes do you have?
23 pairs
Out of the pairs of chromosomes, how many are autosomes?
22 pairs
out of the pairs of chromosomes, how many are sex chromosomes?
1 pair
What do somatic cells divide by?
Mitosis
What does “soma” mean?
body
What do Gametes divide by?
Meiosis
Somatic cells have —- chromosomes.
46
Gametes have —- chromosomes
23
For each gene, or trait, there is a set of — alleles.
2
How many alleles are inherited from each parent?
1
Alleles are either — or —-.
- Dominant
- Recessive
Define recessive
Expressed only when both alleles are recessive
Define dominant
Always expressed
Define genotype:
What the actual alleles are for each trait.
Define Phenotype:
What characteristics are observed.
Gene BB indicate what type of alleles?
Homozygous or dominant
Gene Bb indicate what type of alleles?
Heterozygous
Gene bb indicate what type of alleles?
Homozygous recessive
Autosomal Dominant Inheritance applies that when the gene is —- and on an —-.
Both dominant
Autosome
An Autosomal Dominant Disorders are caused by a ——.
Defect on a dominant gene.
A—–, dominant gene is all one needs to inherit to have the disease
Single.
Name 2 Autosomal Dominant Disorders.
1) Huntington’s Disease
2) BRCA1 and BRCA2
A defective gene will dominate what?
The gene pair
Each child has a —- chance of inheriting a autosomal disorder.
50%
Autosomal Recessive Inheritance applies when the gene is both —– and —-.
- Recessive
- On an autosome
A recessive gene is only expressed if —- alleles have the —- gene.
- Both
- Recessive
What are some examples of Autosomal Recessive Disorder.
1) Cystic Fibrosis
2) Sickle Cell Anemia
3) Tay Sachs
In an Autosomal Recessive Disorder, — copies of the gene must be present in order for the disease or trait to develop.
2
If one parent has the disease, the risk their child will inherit a gene transmitting the disorder are:
- 100% all children will be carriers
- No children will be Affected
- No children will be Unaffected
If both parents are carriers, the risk their child will inherit a gene transmitting the disorder are:
1) 25% chance no defective genes = unaffected
2) 50% on defective gene = carrier
3) 25% two defective genes = affected
If 2 parents are heterozygous for a genetically inherited dominant trait, what is the probability that they will have a child together who has this trait in his phenotype?
50%
When the genotype consists of a dominant and recessive allele, the phenotype will be like ____ allele
The dominant
X- linked disorders are — in females and — in males.
- Recessive
- Dominant
Examples of x-linked inheritance disorders are?
1) Hemophilia
2) Color vision deficiency
3) Muscular dystrophy
Mothers have 2 X chromosomes and only one is affect, so there is a — chance each child will inherit the disorder.
50/50
Daughter who inherits X chromosomes from mother will be a ____.
Carrier
Sons who inherit X chromosomes from mom will ____.
Have the disorder
Since affected father only have one X chromosome to contribute to their daughters will inherit ____.
The disorder and be carriers.
Dads contribute their Y chromosomes (never an X) to their sons, so _____the disorder.
none of their sons will inherit the disorder.
When do mutations occur?
Usually occur when paired chromosomes separate abnormally.
Define Aneuploidy
An abnormal number of chromosomes
How is aneuploidy diagnosed?
W/ a Karyotype
Define Monosomy:
- Single chromosome instead of a pair
- Usually incompatible w/ life
- Frequent cause of miscarriage
Define Trisomy
Three chromosomes instead of two
When does Turner syndrome happen?
Women missing an X chromosome
Define Mosaicism
2 different genotypes in the same individual.
What is your health affected by?
- Genes
- Lifestyle
- Environment
The way you live influences your ___.
Genomics
Name some diseases that can be caused by multifactorial influences.
1) Cardiovascular disease
2) Hypertension
3) Diabetes
What does FH identify the presence of?
- Genetic traits
- Inherited conditions
What is a pedigree chart?
A graph of a FH
A minimum of — generations is required to see patterns of inheritance.
3
What genetic risk factors do nurses look for when doing a health assessment?
1) Genetic influences
2) Lifestyle
3) Environmental exposure
4) Infectious agents
Nurses may be the – healthcare professional to — a pt’s genetic risk.
- First
- Identify
The American Nurses Association and Human Genome Project developed —- for ALL nurses
Genetic Competencies
What are some Genetic Competencies.
1) Understand genetics well enough to recognize genetic risk factors.
2) Coordinate w/ health care team members.
3) Identify those at risk for disease development
4) Advocate for people to reduce their risk
5) Recognize cues the pt is interested in genetic testing.
How long does someone with Tay Sachs disease live?
Doesn’t live past 4
By law, when a baby is born, what screening needs to be done?
Metabolic screening
What are some benefits of genetic testing.
- Early detection in individuals at risk for a genetic health problem but exhibit no symptoms
- Screen out those at risk who are not genetic carriers
- Assist health provider in planning care for affected individuals and their families.
What are some risks of Genetic testing?
1) Psychological risk if test is positive.
2) Social Risk
3) Financial risk
