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1040 Principles of Nursing Across the Lifespan > Unit 4 Genetics > Flashcards

Unit 4 Genetics Flashcards

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1
Q

Define genetics

A

Study of individual genes and their impact on relatively rare single gene disorders

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2
Q

Define genomics

A

Study of all genes, including their interactions w/ each other, the environment, and the influence of other psychosocial and cultural factors

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3
Q

Most genes code for — the body needs.

A

Proteins

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4
Q

What is a Karyotype

A

The ordered display of chromosomes

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5
Q

How many pairs of chromosomes do you have?

A

23 pairs

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6
Q

Out of the pairs of chromosomes, how many are autosomes?

A

22 pairs

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7
Q

out of the pairs of chromosomes, how many are sex chromosomes?

A

1 pair

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8
Q

What do somatic cells divide by?

A

Mitosis

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9
Q

What does “soma” mean?

A

body

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10
Q

What do Gametes divide by?

A

Meiosis

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11
Q

Somatic cells have —- chromosomes.

A

46

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12
Q

Gametes have —- chromosomes

A

23

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13
Q

For each gene, or trait, there is a set of — alleles.

A

2

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14
Q

How many alleles are inherited from each parent?

A

1

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15
Q

Alleles are either — or —-.

A
  • Dominant
  • Recessive
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16
Q

Define recessive

A

Expressed only when both alleles are recessive

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17
Q

Define dominant

A

Always expressed

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18
Q

Define genotype:

A

What the actual alleles are for each trait.

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19
Q

Define Phenotype:

A

What characteristics are observed.

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20
Q

Gene BB indicate what type of alleles?

A

Homozygous or dominant

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21
Q

Gene Bb indicate what type of alleles?

A

Heterozygous

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22
Q

Gene bb indicate what type of alleles?

A

Homozygous recessive

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23
Q

Autosomal Dominant Inheritance applies that when the gene is —- and on an —-.

A

Both dominant
Autosome

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24
Q

An Autosomal Dominant Disorders are caused by a ——.

A

Defect on a dominant gene.

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25
Q

A—–, dominant gene is all one needs to inherit to have the disease

A

Single.

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26
Q

Name 2 Autosomal Dominant Disorders.

A

1) Huntington’s Disease
2) BRCA1 and BRCA2

27
Q

A defective gene will dominate what?

A

The gene pair

28
Q

Each child has a —- chance of inheriting a autosomal disorder.

A

50%

29
Q

Autosomal Recessive Inheritance applies when the gene is both —– and —-.

A
  • Recessive
  • On an autosome
30
Q

A recessive gene is only expressed if —- alleles have the —- gene.

A
  • Both
  • Recessive
31
Q

What are some examples of Autosomal Recessive Disorder.

A

1) Cystic Fibrosis
2) Sickle Cell Anemia
3) Tay Sachs

32
Q

In an Autosomal Recessive Disorder, — copies of the gene must be present in order for the disease or trait to develop.

A

2

33
Q

If one parent has the disease, the risk their child will inherit a gene transmitting the disorder are:

A
  • 100% all children will be carriers
  • No children will be Affected
  • No children will be Unaffected
34
Q

If both parents are carriers, the risk their child will inherit a gene transmitting the disorder are:

A

1) 25% chance no defective genes = unaffected
2) 50% on defective gene = carrier
3) 25% two defective genes = affected

35
Q

If 2 parents are heterozygous for a genetically inherited dominant trait, what is the probability that they will have a child together who has this trait in his phenotype?

A

50%

36
Q

When the genotype consists of a dominant and recessive allele, the phenotype will be like ____ allele

A

The dominant

37
Q

X- linked disorders are — in females and — in males.

A
  • Recessive
  • Dominant
38
Q

Examples of x-linked inheritance disorders are?

A

1) Hemophilia
2) Color vision deficiency
3) Muscular dystrophy

39
Q

Mothers have 2 X chromosomes and only one is affect, so there is a — chance each child will inherit the disorder.

A

50/50

40
Q

Daughter who inherits X chromosomes from mother will be a ____.

A

Carrier

41
Q

Sons who inherit X chromosomes from mom will ____.

A

Have the disorder

42
Q

Since affected father only have one X chromosome to contribute to their daughters will inherit ____.

A

The disorder and be carriers.

43
Q

Dads contribute their Y chromosomes (never an X) to their sons, so _____the disorder.

A

none of their sons will inherit the disorder.

44
Q

When do mutations occur?

A

Usually occur when paired chromosomes separate abnormally.

45
Q

Define Aneuploidy

A

An abnormal number of chromosomes

46
Q

How is aneuploidy diagnosed?

A

W/ a Karyotype

47
Q

Define Monosomy:

A
  • Single chromosome instead of a pair
  • Usually incompatible w/ life
  • Frequent cause of miscarriage
48
Q

Define Trisomy

A

Three chromosomes instead of two

49
Q

When does Turner syndrome happen?

A

Women missing an X chromosome

50
Q

Define Mosaicism

A

2 different genotypes in the same individual.

51
Q

What is your health affected by?

A
  • Genes
  • Lifestyle
  • Environment
52
Q

The way you live influences your ___.

A

Genomics

53
Q

Name some diseases that can be caused by multifactorial influences.

A

1) Cardiovascular disease
2) Hypertension
3) Diabetes

54
Q

What does FH identify the presence of?

A
  • Genetic traits
  • Inherited conditions
55
Q

What is a pedigree chart?

A

A graph of a FH

56
Q

A minimum of — generations is required to see patterns of inheritance.

A

3

57
Q

What genetic risk factors do nurses look for when doing a health assessment?

A

1) Genetic influences
2) Lifestyle
3) Environmental exposure
4) Infectious agents

58
Q

Nurses may be the – healthcare professional to — a pt’s genetic risk.

A
  • First
  • Identify
59
Q

The American Nurses Association and Human Genome Project developed —- for ALL nurses

A

Genetic Competencies

60
Q

What are some Genetic Competencies.

A

1) Understand genetics well enough to recognize genetic risk factors.
2) Coordinate w/ health care team members.
3) Identify those at risk for disease development
4) Advocate for people to reduce their risk
5) Recognize cues the pt is interested in genetic testing.

61
Q

How long does someone with Tay Sachs disease live?

A

Doesn’t live past 4

62
Q

By law, when a baby is born, what screening needs to be done?

A

Metabolic screening

63
Q

What are some benefits of genetic testing.

A
  • Early detection in individuals at risk for a genetic health problem but exhibit no symptoms
  • Screen out those at risk who are not genetic carriers
  • Assist health provider in planning care for affected individuals and their families.
64
Q

What are some risks of Genetic testing?

A

1) Psychological risk if test is positive.
2) Social Risk
3) Financial risk

1040 Principles of Nursing Across the Lifespan (9 decks)

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