Chapter 6 Genetic Concepts For Medical Surgical Nursing

Question 1

Define “genomics”

Answer 1

The science focusing on the function of all of the human DNA, including genes and noncoding DNA regions.

Question 2

Define “genomic health care”

Answer 2

The application of known genetic variation to enhance health care to individuals and their families.

Question 3

Define “heritability”

Answer 3

The risk that a disorder can be transmitted to one’s children in a recognizable pattern.

Question 4

Define “genes”

Answer 4

The deoxyribonucleic acid (DNA) in the form of chromosomes within the nucleus of each cell that contains the instructions for making all the different proteins any organism makes. Every human cell with a nucleus contains the entire set of human genes.

Question 5

Define “nucleotide”

Answer 5

The final form of a base that actually gets put into the strand of deoxy ribonucleic acid. A nucleoside becomes a complete nucleotide by the attachment of phosphate groups.

Question 6

Define “mitosis”

Answer 6

Cell division

Question 7

Define “locus”

Answer 7

The specific chromosome location for a gene.

Question 8

Define “karyotype”

Answer 8

Technique used to make an organized arrangement of all the chromosomes within one cell during the metaphase section of mitosis.

Question 9

Define “euploid”

Answer 9

Having the correct number of chromosome pairs for the species.

Question 10

Define “aneuploid”

Answer 10

An abnormal karyotype with more or fewer than 23 pairs of chromosomes.

Question 11

Define “autosomes”

Answer 11

Any of the 22 pairs of human chromosomes containing genes that code for all the structures and regulatory proteins needed for normal function but do not code for sexual differentiation of a person.

Question 12

Define “sex chromosomes”

Answer 12

The pair of chromosomes containing the genes for sexual differentiation in humans. In males, the sex chromosomes are an X and a Y; in females, the sex chromosomes are two Xs.

Question 13

Define “gene”

Answer 13

The deoxyribonucleic acid (DNA) in the form of chromosomes within the nucleus of each cell that contains the instructions for making all the different proteins any organism makes. Every human cell with a nucleus contains the entire set of human genes.

Question 14

Define “allele”

Answer 14

An alternate form (or variation) of a gene.

Question 15

Define “phenotype”

Answer 15

Any genetic characteristic that can actually be observed or, in some cases, determined by laboratory test.

Question 16

Define “genotype”

Answer 16

The actual alleles for a genetic trait, not just what can be observed.

Question 17

Define “protein synthesis”

Answer 17

The process by which genes are used to make the proteins needed for physiologic function.

Question 18

Define “mutation”

Answer 18

A change in deoxyribonucleic acid (DNA) that is passed from one generation to another.

Question 19

Define “polymorphism”

Answer 19

A variation in form.

Question 20

Define “point mutations”

Answer 20

The substitution of one base for another.

Question 21

Define “frameshift mutations”

Answer 21

A mutation that occurs as a result of adding or deleting a single base or a group of bases.

Question 22

Define “pedigree”

Answer 22

A graph of a family history for a specific trait or health problems over several generations.

Question 23

Define “penetrance”

Answer 23

In genetics, how often or how well a gene is expressed when it is present within a population.

Question 24

Define “expressivity”

Answer 24

In genetics, the degree of expression a person has when a specific autosomal dominant gene is present. The gene is always expressed, but some people have more severe results.

Question 25

Define “genetics”

Answer 25

The science concerned with the general mechanisms of heredity and the variation of inherited traits.