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62 Cards in this Set

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one of possible alternate forms of a gene...can be due to a variation in a gene sequence or to the existence of many slightly different genes (within a species) coding for the same single trait
allele
nucleotides that pair up loosely together when DNA is double-stranded...they are held together with the relatively weak forces of hydroge bonds...normaly, adenine and thymine form a pair by sharing two hydrogen bonds; cytosine and guanine form a base pair sharing three hydrogen bonds
base pairs
the nitrogenous bases that normally pair using hydrogen bonds...adenine and thymine are complementary to each other...cytosine and guanine are complementary to each other...because these paris are complenaty and failful, if the sequences of bases for one strnd of DNA is know, the complementary strand can be predicted
complementary bases
a temmporary but consistent state of cellular DNA tightly condensed and coilded into dense bodies that take up stain and are visible under a microscope during metaphase of mitosis
chromosomes
the normal or expected number of chromosomes for the species
euploid
this is the complete set of chromosome pairs found in all individual's somatic cells...the normal diploid chromosomes nuber for humans is 46 (23 pairs)...the normal diploid chromosme number for mice is 40 (20 pairs)
diploid (2N)
a set of chromosome consisting of half of each pair...the normal haploid number of human chromosomes is 23...only the sex cells (ova and sperm) have the haploid number so that fertilization sresults in tnormal kiploid number
haploid (1N)
the "pinched'in" area of a chromosome where the two chromatids are joined
centromere
the longitudinal half of a metaphase chromosome (split through the centromere)...this structure actually is the original and duplicated DNA tyahas not yet separated during mitosis
chromatid
"p" arm
the short "arm" of a chromosome above the centromere
"q" arm
the long "arm" of a chromosome below the centromere
the 22 pairs of human chromosomes that do not code for the secual differentiation of the individual
autosomes
the pair of chromosomes that code for the sexual differentiation of the individual...in males the sex chromosomes are usually an X and a Y...in females the sex chromosomes are usually two Xs
sex chromosomes
a nitrogenous base of adenine, guanine, cytosine, or thymine attached to a five-sided sugar (ribose sugar)
nucleoside
a nucleoside (nitrogenous base attached to a five-sided sugar) connected to a phosphate group...it is this structure that assembles into a single strand of DNA
nucleotide
the frequency with which a specific trait or condition is found in both members of a natural pair...when such a trait/condition is present in both members of a natural pair (as in the case of "identical" twins), the trait/condition is considered genetic in origin
concordance
these siblings are the product of one fertilized egg that split into two or more equal parts during embryogenesis..the genetic material is identical for all individuals who develop as a result of this split...this is the origin of "identical" twins or triplets
monozygotic (MZ) siblings
even though these siblings have shared a womb and are born at the same time, they are the result of different fertilized eggs..their genetic material is not identical and is no more similar than any other siblings...this is the origin of "fraternal" twins, triplets or other multiple births
dizygotic (DZ) siblings
think "code"...each amino acid that makes up a protein has a specific code in the DNA...this is made up of a three-base sequence...for example, the DNA code (codon) for the amino acid methionine is TAC (for thymine, adenine, and cytosine)
codon
RNA, or ribonucleic acid, is a single strand of nitrogenous bases (adenine, guanine, cytosine, and uracil) constructed during transcription from a segment of DNA containing the gene for a specific protein...the RNA is complementary to the "template" DNA...a major difference in RNA is the use of the base "uracil" in place of thymine
RNA
the process of making a new strand of DNA or RNA that is compmlementary to the original or "template" DNA...when a cell is dividing, both entire strands of DNA are transcribed so that there is sufficient DNA for each of the two new "daughter" cells...when a protein is going to be made, only the segment of DNA that contains the gene for the protein is transcribed into RNA
transcription
the using of a messenger RNA molecules RNA molecule as the directions for proper placement of amino acids during protein synthesis
translation
a five-sided sugar with a hydroxl group (OH) on the number 2 carbon..this type of sugar forms an attachment with the bases that compose the RNA nucleotides (adenosine, guanosine, cytidine, and uridine)
ribose
a five-sided sugar with a hydrogen molecule (and no oxygen) on the number 2 carbon...this type of sugar forms an attachment with the nitrogenous bases that compose DNA nucleotides (adenosine, guanosine, cytidine, and thymidine)
deoxyribose
the activation of a gene leading to the transcription, translation, and synthesis of a specific protein...the result of gene expression is the observable presence of the specific trait or condition coded for by the gene
gene expression
the complete set of genes for the species
genome
the exact location of a gene on a specific chromosome
gene locus
the exact allele pair composition for any given single gene trait...when both alleles are identical (homozygous), genotype and phenotype are the same...when a gene's alleles are differnt from each other (heterozygous), the actual genotype may be different from what is observed (phenotype)
genotype
observed expression of any given single trait (e.g., blood type, hair color, presence of male secondary sexual characteristics)
phenotype
having identical alleles (two) at a gene chromosome locus for a specific single gene trait
homozygous
having two different alleles at a gene chromosome locus for a specific single gene trait
heterozygous
an alteration in the base sequence of a gene that has deleterious effects on the function of the gene's product
mutation
an alteration in the base sequence of a gene that has minimal effects on the function of the gene's product
polymorphism
Carrier testing is determining whether a client without symptoms has an 1____ for a recessive disorder that could be transmitted to his or her children. Disorders for which carrier testing is common include 3 (6)?
1 allele

2 beta thalassemia
cystic fibrosis
hemophilia
hereditary hemochromatosis
sickle cell disease
Tay-Sach's disease
Diagnostic testing determines whether a patient has or does not have a ____ that increases the risk for a specific _____ disorder
mutation
genetic
Symptomatic genetic testing is when a patient has a clinical _______...test resuls confirm a _____
manifestation
diagnosis
Presymptomatic genetic testing patient has no clinical manifestations but is at high risk for inheriting a specific genetic disorder for which there is no known prevention or treatment...a disorder for which _______ testing is commonly performed is ______ disease
presymptomatic
Huntington
Predisposition is a purpose of genetic testing for adults...family history or genetic testing indicates risk is high for a known 1_____ disorder...the client does not hae any manifestations but wants to know whether he or she has the specific mutation and what the chances are that it will be expressed. Disorders for which 2______ testing is often performed include 3______ breast/ovarian cancer and 4_____ colorectal cancers...the advantage of predisposition testing is that the client can then engage in heightened 5_____ activities or medical and surgical interventions that reduce risk
1 genetic
2 predisposition
3 hereditary
4 hereditary
5 screening
The nurse should pre-assess a patient through ______sessions about genetic testing.
multiple
Genetic testing pre-assessment requires taking a detailed family history and constructing a ____-____ ____ (minimum)
three-way pedigree
Genetic testing pre-assessment requires obtaining and verifying information obtained from (5)?
client
death certificates
family members
medical records
pathology reports
Genetic testing pre-assessment requires 1_____ family history, discussing consequences of testing, discussing patient 2____ and obligations regarding disclosure of information, discussing testing options, assessing to determine whether 3_____ is occurring, obtaining material to be tested (usually 4____)
1 interpreting
2 rights
3 coercion
4 blood
Test result presentation...re-assessing patient's wish to know or not know the test results...respecting client's 1______ not to know the test results...assuring privacy and 2_____...presenting the test results...3______ the test results...assessing the patient's 4______ of the test results
1 decision
2 confidentiality
3 interpreting
4 perception
The 3 steps involved in the process of genetic testing and counseling are (3)?
Pre-testing assessment and
patient education (may take
multiple sessions)
Test result presentation
Follow-up
DNA, genes, and chromosomes are _____ _____ of the same substance.
different forms
All human cells with a nucleus contain all the ____
genes
Every time a cell divides, it must replicate its ____
DNA
The normal human ______ number is 46.
chromosome
The purpose of a ____ is to serve as the instructions for making a specific protein
gene
Mutations can change the activity of a _____ and have adverse effects on health
protein
Many common adult diseases or disorders have a genetic basis (____,____,____) although some of these diseases also may occur among people with no genetic risk
cancer
diabetes
hypertension
A _____ with at least three generations is needed when performing a genetic risk assessment
pedigree
Each child of a person who has an ______ _____ genetic problem has a 50% risk of inheriting the gene for the problem.
autosomal dominant
Having a ____ for a disorder does not necessarily mean that the disorder will ever develop
gene
Genetic testing requires ____ _____.
INFORMED CONSENT
The results of genetic tests do/do not change.
do not
There is no single _____ _____ that can provide information about all aspects of patient's health risks.
genetic test
Genetic testing reveals information about the patient and his or her ______ ______
family members
Genetic testing is _____ and might not be covered by _____
expensive
insurance
Genetic testing requires individual _____ _____ assessment
genetic risk
Just because a genetic test is available does not mean that it is _____ or _____ that any given patient should have the test.
right or necessary
Clients having genetic testing should have genetic counseling _____ the testing and followup counseling _____ testing.
before
after