Glossary of Medical 7-MS11-Genetic Concepts for MS Nursing
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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
- 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 pai
- 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
- 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
- the normal or expected number of chromosomes for the species
- 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
- 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
- "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
- 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)
- 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
- 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 considere
- 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" t
- 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&
- 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)
- 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&
- 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 "daught
- the using of a messenger RNA molecules RNA molecule as the directions for proper placement of amino acids during protein synthesis
- 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)
- 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)
- 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
- 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 differen
- observed expression of any given single trait (e.g., blood type, hair color, presence of male secondary sexual characteristics)
- having identical alleles (two) at a gene chromosome locus for a specific single gene trait
- having two different alleles at a gene chromosome locus for a specific single gene trait
- an alteration in the base sequence of a gene that has deleterious effects on the function of the gene's product
- an alteration in the base sequence of a gene that has minimal effects on the function of the gene's product
- 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
sickle cell disease
- Diagnostic testing determines whether a patient has or does not have a ____ that increases the risk for a specific _____ disorder
- Symptomatic genetic testing is when a patient has a clinical _______...test resuls confirm a _____
- 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 _____
- 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 an
- 1 genetic
- The nurse should pre-assess a patient through ______sessions about genetic testing.
- 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)?
- 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 occurrin
- 1 interpreting
- 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
- 1 decision
- The 3 steps involved in the process of genetic testing and counseling are (3)?
- Pre-testing assessment and
patient education (may take
Test result presentation
- DNA, genes, and chromosomes are _____ _____ of the same substance.
- different forms
- All human cells with a nucleus contain all the ____
- Every time a cell divides, it must replicate its ____
- The normal human ______ number is 46.
- The purpose of a ____ is to serve as the instructions for making a specific protein
- Mutations can change the activity of a _____ and have adverse effects on health
- Many common adult diseases or disorders have a genetic basis (____,____,____) although some of these diseases also may occur among people with no genetic risk
- A _____ with at least three generations is needed when performing a genetic risk assessment
- 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
- 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 _____
- 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.
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