Wk 2 Flashcards
Genetics in nursing
Genetics
Genetics is the study of genes in your body
Genomics
Genomics is the study of genes as a whole in a population or group.
What are the four types of genetic inheritance?
Autozomo dominant - trait expressed with one copy of a gene. 50% chance of passing on.
Autosomal recessive hyphen required two copies of the gene, one from each parent.
X linked ( dominant or recessive ) carried on the x chromosome.
multi-factorial- traits that cluster in families, but do not have characteristic pattern of inheritance.
Autosomal
Any chromosome that is not a sex chromosome ( 22 pairs )
Pedigree
The recorded ancestry
Heterozygous
Having two different alleles of a particular gene.
Carrier
Someone with a recessive allele, phenotype doesn’t show.
Dominant
An overriding gene.
Proband
A person serving as the starting point for a genetic study of a family.
Recessive
A less dominant gene that only shows in a phenotype when received from both parents.
Epigenetics
How hereditable changes in genes expression. A change in phenotype without a change in genotype.
Sex linked
A gene or hereditable characteristic carried by a sex chromosome.
Homozygous
Having two or more identical alleles of a particular gene.
Genotype
Genotype is the collection of jeans responsible for the various genetic traits of an individual.
Phenotype
Phenotype is a composition of genes that make up and organisms observable characteristics or traits. An example would be hair color eye color skin color.
Penetrance versus expression
Penetrance - percentage of population that have a specific gene.
expression - how likely that gene is to be expressed in a particular population.
What chromosomes increase your risk for breast cancer?
An autosomal dominant from chromosomes 13 parentheses BRCA2 ) and chromosome 17 ( BRCA1 ) This causes a 50% to 80% risk increase of breast cancer.
What is Tay-Sachs? What population does it run in?
Tay-Sachs is a recessive gene where the absence of a vital enzyme called hexosomindase A (HEX-A). It causes death within the first 4 years of life. It runs common in Eastern European Jewish descendants.
What je an is responsible for obesity? What BMI classifies obesity?
Leptin and its receptors are related to obesity. Hey BMI greater than 30 is considered obese.
What are the three mechanisms of epigenetics?
DNA methylation
Histone modification
RNA-bas ed mechanisms
What are the healthy people 2020 to topics on genomics?
Recommendation number one is for women with certain high risk family health history of breast and ovarian cancer to receive genetic counseling.
Recommendation number two is for all people who are newly diagnosed with colorectal cancer should receive counseling and educational material about genetic testing family members could benefit from knowing whether colorectal cancer in their family is the hereditary for m called Lynch syndrome.
What aspects of the environment affect human health and quality of life?
Physical. Chemical. Biological. Social. Psychological.
What is the hereditable form of colorectal cancer?
Familial adenomatous polyposis (adenomatous polyposis coli (APC)) also known as Lynch syndrome.
What type of genetic inheritance is hemophilia?
Hemophiliais a sex-linked recessivedisorder. The abnormal gene responsible forhemophiliais carried on theX chromosome. Males have oneX chromosomeand one Ychromosome.
Is sickle cell anemia dominant or recessive?
Recessive
What is polygenic?
Many genes that could affect one trade
What is epistasis?
One gene that could mask the effects of another.
What is complementary
One gene that depends on another
What is collaborative
Two jeans together that create a new phenotype
