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Genetics: Karyotype, Gene, Phenotype, Genotype, Mutations, Inheritance, and Ethics, Quizzes of Nursing

Bryant and Stratton College-Willoughby Hills Nursing

Definitions and explanations for various genetics terms and concepts, including karyotype, gene, phenotype, genotype, mutations, inheritance patterns, and ethical issues related to genetic testing. Topics covered include chromosome arrangement, basic unit of heredity, observable characteristics, alleles, dna changes, pedigree analysis, autosomal dominant and recessive inheritance, expressivity, benefits, and risks of genetic testing, and ethical dilemmas.

Typology: Quizzes

Pre 2010

Uploaded on 11/10/2009

kenzkat 🇺🇸

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TERM 1

karyotype

DEFINITION 1

organized arrangement of chromosomes within one cell

TERM 2

gene

DEFINITION 2

the basic unit of heredity that contains the code or recipe for

a specific protein

TERM 3

phenotype

DEFINITION 3

what characteristic can actually be observed or determined

in a laboratory

TERM 4

genotype

DEFINITION 4

the actual alleles for the trait, not just what can be observed

TERM 5

mutations

DEFINITION 5

DNA changes that are passed on from generation to

generation (inherited)

Genetics: Karyotype, Gene, Phenotype, Genotype, Mutations, Inheritance, and Ethics, Quizzes of Nursing

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karyotype

organized arrangement of chromosomes within one cell

TERM 2

gene

DEFINITION 2

the basic unit of heredity that contains the code or recipe for

a specific protein

TERM 3

phenotype

DEFINITION 3

what characteristic can actually be observed or determined

in a laboratory

TERM 4

genotype

DEFINITION 4

the actual alleles for the trait, not just what can be observed

TERM 5

mutations

DEFINITION 5

DNA changes that are passed on from generation to

generation (inherited)

point mutation

substitution of one base by another

TERM 7

frameshift mutation

DEFINITION 7

addition or deletion of a base - stops protein synthesis

TERM 8

pedigree

DEFINITION 8

graph of a family history for a specific trait

TERM 9

autosomal dominant pattern of

inheritance

DEFINITION 9

only the dominant allele is expressed if paired with a

recessive allele

TERM 10

penetrance

DEFINITION 10

how often a gene is expressed in a population when present

expressivity

degree of expression when a specific autosomal dominant

gene is present

TERM 17

benefits of genetic

testing

DEFINITION 17

confirm diagnosis, help develop plan of care, or screening to

help early detection, interventions in place before

development of the disease

TERM 18

risks of genetic

testing

DEFINITION 18

psychological and social risks for family disruption -

depression, blame, guilt. Fear of workplace discrimination if

results known to be positive

TERM 19

What are the ethical issues associated with

genetic testing

DEFINITION 19

The right to know versus the right not to know Confidentiality

Coersion Sharing of information

TERM 20

What is the role of the medical-surgical nurse

in genetic counseling?

DEFINITION 20

communication privacy and confidentiality information

accuracy client advocacy support