Nursing Role in Genetic Assessment and Counseling Flashcards Preview

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Flashcards in Nursing Role in Genetic Assessment and Counseling Deck (42)
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1

Is an experimental technique that uses gene to treat or prevent disease

Gene Replacement Theory

2

DNA is inserted, deleted modified, or replaced in the genome of a living organism targets the insertions to site-specific locations.

Gene Editing

3

Inherited or genetic disorders are disorders that can be passed from one generation to the next because they result from some disorder in the gene or chromosome structure.

Genetic Disorders

4

Is the study of the way such disorders occur.

Genetics

5

is the study of chromosomes by light microscopy and the method by which chromosomal aberrations are identified

Cytogenetics

6

are the basic units of heredity that determine both physical and cognitive characteristics of people

Genes

7

are composed of segments of DNA, which are woven into strands in the nucleus of all body cells to form chromosomes.

Genes

8

Are the two like genes on autosomes

Alleles

9

Refers to a person's outward appearance or the expression of genes.

Phenotype

10

refers to a person's actual gene composition.

Genotype

11

is the complete set of genes present (about 50, 000 to 100,000)

Genome

12

the basic unit of genetic information

Gene

13

The storage unit of genes

Chromosomes

14

is a nucleic acid that contains the genetic instructions specifying the biological development of all cellular forms of life

DNA

15

He describes that when the dominant gene is paired with nondominant (recessive) ones, the dominant genes are always expressed in preference to the recessive genes.

Gregor Mendel

16

2 healthy genes

Homozygous

17

2 unhealthy genes

Heterozygous

18

An allele is expressed even if it is paired with a recessive allele.

Dominant

19

An allele is only visible when paired with another recessive allele.

Recessive

20

The disease does not occur unless 2 genes for the disease are present

Autosomal Recessive (Homozygous recessive pattern)

21

either a person has 2 unhealthy genes

Autosomal Dominant (Homozygous Dominant

22

Genes are located on and transmitted only by the female sex chromosome (X chromosome)

X-linked Dominant Inheritance

23

Usually, only males will have the disorder

X-linked Recessive Inheritance

24

From multiple gene combinations plus environmental factors

Multifactorial (Polygenic) Inheritance

25

How do you define chromosomal abnormalities?

Chromosomal abnormalities occur because of the fault of the number/structure of chromosomes which results in missing or distorted genes

26

When chromosomes are photographed and displayed, the resulting arrangement is termed as?

Karyotype

27

FISH means?

Fluorescent in situ hybirdization

28

The number of chromosomes and specific parts of chromosomes can be identified by karyotyping or by this process

FISH (Fluorescent in situ hybirdization)

29

What do you call when the division is uneven?

Nondisjunction

30

Why the division is uneven?

The division is uneven resulting in 1 sperm/ovum having 24 & other 22