Flashcards in Nursing Role in Genetic Assessment and Counseling Deck (42)
Is an experimental technique that uses gene to treat or prevent disease
Gene Replacement Theory
DNA is inserted, deleted modified, or replaced in the genome of a living organism targets the insertions to site-specific locations.
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.
Is the study of the way such disorders occur.
is the study of chromosomes by light microscopy and the method by which chromosomal aberrations are identified
are the basic units of heredity that determine both physical and cognitive characteristics of people
are composed of segments of DNA, which are woven into strands in the nucleus of all body cells to form chromosomes.
Are the two like genes on autosomes
Refers to a person's outward appearance or the expression of genes.
refers to a person's actual gene composition.
is the complete set of genes present (about 50, 000 to 100,000)
the basic unit of genetic information
The storage unit of genes
is a nucleic acid that contains the genetic instructions specifying the biological development of all cellular forms of life
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.
2 healthy genes
2 unhealthy genes
An allele is expressed even if it is paired with a recessive allele.
An allele is only visible when paired with another recessive allele.
The disease does not occur unless 2 genes for the disease are present
Autosomal Recessive (Homozygous recessive pattern)
either a person has 2 unhealthy genes
Autosomal Dominant (Homozygous Dominant
Genes are located on and transmitted only by the female sex chromosome (X chromosome)
X-linked Dominant Inheritance
Usually, only males will have the disorder
X-linked Recessive Inheritance
From multiple gene combinations plus environmental factors
Multifactorial (Polygenic) Inheritance
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
When chromosomes are photographed and displayed, the resulting arrangement is termed as?
Fluorescent in situ hybirdization
The number of chromosomes and specific parts of chromosomes can be identified by karyotyping or by this process
FISH (Fluorescent in situ hybirdization)
What do you call when the division is uneven?