2nd Edition by Beery - Ch. 1-20, 9780803660830, with
Rationales
what is the nurse's role in regards to genetics in nursing? - ANSWER: Advocacy
Tailor genetic information to culture, religion, knowledge, literacy, and preferred language
Construct a pedigree
Develop a plan of care using genetic/genomic information
Facilitate referrals
Provide credible, accurate, appropriate, and current genetic and genomic information
nursing care in regards to genetics: - ANSWER: Genetic/genomic information gathering
Prevention
Screening
Diagnostics
Prognostic
Selection of treatment
Treatment effectiveness
genetics: - ANSWER: study of individual genes and their impact on relatively rare single gene disorders
Most individuals are born with a set of ______ chromosomes - ANSWER: 46; half from their mother
and half from their father
the first 22 pairs of chromosomes are referred to as... - ANSWER: autosomes (somatic); these are the
same for both male and female
DNA is located in the nucleus of every cell in the body with the exception of... - ANSWER: Red blood
cells
which cells in the body are haploid cells? - ANSWER: Reproductive cells/gametes (e.g. egg and sperm);
only have 23 chromosomes (not paired) for conception and human development
what are the 4 chemical bases in DNA? - ANSWER: adenine (A)
guanine (G)
cytosine (C)
thiamine (T)
what makes up the two sides of the DNA's double helix? - ANSWER: alternating sugar and phosphate
units
DNA sequence: - ANSWER: the order of nucleotides
DNA directs the synthesis of all of the body's ________________ - ANSWER: proteins (and hormones
and enzymes)
why does every person has two copies of each gene? - ANSWER: one inherited from each of their
parents
alleles: - ANSWER: alternate forms of a gene at the same locus
, homologous chromosomes have ______________ alleles - ANSWER: 2 (2 copies/alleles of each gene)
--> ex: 2 alleles to determine blood type (one from mom, one from dad)
locus: - ANSWER: position of a gene on a chromosome
changes in gene expression may change the amount of ____________ produced - ANSWER: protein
DNA is formed and replicated in _____________________, but protein synthesis takes place in the
______________ and is mediated by ____________ - ANSWER: the cell nucleus; cytoplasm; RNA
Transcription: - ANSWER: 1st step - inside nucleus
DNA is copied into RNA
DNA unzips
Complementary RNA strand is produced (single stranded, nucleotides/T vs U)
Translation: - ANSWER: 2nd Step
RNA directs the synthesis of a protein/amino acid/polypeptide to "turn the gene on"
mutations most commonly occur during __________________ - ANSWER: transcription
what is the goal of the Human Genome Project? - ANSWER: To find the location of all human genes
(the "gene map")
genome: - ANSWER: complete set of genes or genetic material present in an organism
genomics: - ANSWER: Study of all the genes in the human genome together, including their
interactions with each other, the environment and the influence of other psychosocial and cultural
factors
Which statement is true about the role of a gene in the synthesis of a specific protein?
a -- A dominant gene triggers protein synthesis, and a recessive gene inhibits protein synthesis.
b -- A gene contains the code for a specific protein.
c -- Genes have no role in protein synthesis.
d -- For protein synthesis, all DNA is transcribed into RNA. - ANSWER: b -- A gene contains the code for
a specific protein.
what is a pedigree? - ANSWER: a visual genetic representation of a family tree that diagrams the
inheritance of a trait or disease through multiple generations; graphic illustration of a family health
history using standardized symbols
what is some important information to be included in a pedigree? - ANSWER: Age or DOB
Date or age of death for those who have passed away
For those with medical problems write down if they smoked, exercised, type of diet etc.
For those with medical conditions write age of diagnosis
Where each side of the family is from
Medical conditions
what are some significant medical conditions to include in a pedigree? - ANSWER: Cancer
Heart disease
Diabetes
HTN
Mental illness
Stroke
Kidney disease
Known genetic conditions
Birth defects (spinal bifida, cleft palate, heart defects)