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Adult Health > Chapter 13 exam 1 (s) > Flashcards

Chapter 13 exam 1 (s) Flashcards

1
Q

What is Genetics:

A

study of genes (basic unit of heredity)

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2
Q

What is genomics? (interact)

A

study of all an individuals genes (genome) and how they interact with each other and person’s environment

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3
Q

What are Genes?

A

The basic principle of genetics

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4
Q

What are the actions of genes?

A
  • control how a cell operates
  • controls the “code” so proteins are made correctly and functions are performed properly
  • arranged in a linear pattern along the chromosome
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5
Q

Define Locus

A

specific location of a gene on a chromosome

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6
Q

define homologues chromosome

A

a set of one maternal chromosome and one paternal chromosome that pair up with each other inside a cell during meiosis

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7
Q

define allele

A

is one of two or more alternative forms of a gene that occupy corresponding loci on homologous chromosome.

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8
Q

define phenotype

A

expressed gene

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9
Q

define genotype

A

all genetic make up of an individual -expressed or not expressed

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10
Q

What are the subgroups of DNA

A
  • adenine
  • guanine
  • cytosine
  • thymine
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11
Q

What are the parts of protein synthesis?

A
  • transcription
  • translation
  • mRNA
  • tRNA
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12
Q

define haploid

A

one set of chromosomes

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13
Q

define diploid

A

two sets of chromosomes

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14
Q

What is a mutation?

A

any changes in usual DNA sequence

-polymorphisms account for subtle mutations

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15
Q

what are some types of mutations?

A
  • germline mutations

- acquired or somatic mutations

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16
Q

What are some inheritance patterns with genetic disorders?

A
  • autosomal dominant
  • autosomal recessive
  • sex linked recessive
  • multifactorial
17
Q

with sex-linked recessive which gender is more likely to be a carrier?

A

Women are more likely to be carrier

18
Q

what the subgroups of autosomal dominant genetic disorders

A

heterozygous, variable expression, incomplete penetrance

19
Q

what are the subgroups of autosomal recessive genetic disorders?

A

homozygous, carrier

20
Q

Data analysis of the human genome project continues to…

A
  • improve diagnosis of disease
  • allow early detection of genetic predisposition to disease
  • determine risk assessment for genetic-related disease
  • assist in matching organ donors
21
Q

What are the classifications of genetic disorders?

A
  1. single gene disorder
  2. multifactorial genetic disorder
  3. environmental influences
  4. chromosomal disorders
22
Q

What are some types of single gene disorders?

A
  • cystic fibrosis, sickle cell, polycystic kidney disease
  • single gene mutation
  • relatively rare among genetic related disorders
23
Q

What are some types of multifactorial genetic disorders?

A
  • heart disease, diabetes, and most cancers
  • complex diseases
  • rarely caused by hereditary mutations in a single gene (breast cancer)
24
Q

What are some types of environmental influenced genetic disorders?

A
  • exercise, diet, chemical exposure, toxins, and smoking

- epigenetics changes are inheritable

25
Q

Epigenetics is defined as

A

the study of changes in gene function that do not involve a change in DNA sequence

26
Q

What are some types of chromosomal genetic disorders?

A
  • Down syndrome

- chronic myelocytic leukemia

27
Q

What are some technology techniques used for genetic testing?

A
  • DNA finger printing
  • polymerase chain reaction
  • DNA microarray
28
Q

DNA finger printing begins with that?

A

begins with extracting DNA from fluid or tissue cells

29
Q

What is genetic testing?

A

any procedure done to analyze chromosome or genes that can determine if a mutation or predisposition to a condition exist

30
Q

What is the purpose of the genome-wide association study?

A

to find genetic variation associated with the development or progression of a particular disease

31
Q

What is Genome-wide association study?

A

approach that involves rapidly scanning complete set of DNA of many individuals

32
Q

What is pharmacogenetics?

A

study of genetic variability of drug responses due to variation in single genes

33
Q

what is pharmacogenomics?

A

study of genetic variability of drug responses due to variation in multiple genes

34
Q

What does Gene therapy involve?

A
  • replacing a mutated gene with a healthy copy
  • inactivating a mutated gene that is mal-functioning
  • introducing a new gene into the body to help fight disease
35
Q

What are stem cells?

A

cell that have the ability to remain in their unspecialized state and divide; differentiate and develop into specialized cells

36
Q

Where do stem cells come from?

A
  • embryonic

- somatic or adult

37
Q

Things to consider with caring for a PT with a possible genetic disorder

A
  1. fundamental knowledge of genetics and genomics impacts your nursing role (assist in health care decision making, collaborate with other team members, advocate for PT)
  2. family history that indicates increased risk for genetic-related disorder

Adult Health (9 decks)

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