Nursing Role in Genetic Assessment and Counseling Flashcards
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.
Gene Editing
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
Is the study of the way such disorders occur.
Genetics
is the study of chromosomes by light microscopy and the method by which chromosomal aberrations are identified
Cytogenetics
are the basic units of heredity that determine both physical and cognitive characteristics of people
Genes
are composed of segments of DNA, which are woven into strands in the nucleus of all body cells to form chromosomes.
Genes
Are the two like genes on autosomes
Alleles
Refers to a person’s outward appearance or the expression of genes.
Phenotype
refers to a person’s actual gene composition.
Genotype
is the complete set of genes present (about 50, 000 to 100,000)
Genome
the basic unit of genetic information
Gene
The storage unit of genes
Chromosomes
is a nucleic acid that contains the genetic instructions specifying the biological development of all cellular forms of life
DNA
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
2 healthy genes
Homozygous
2 unhealthy genes
Heterozygous
An allele is expressed even if it is paired with a recessive allele.
Dominant
An allele is only visible when paired with another recessive allele.
Recessive
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?
Karyotype
FISH means?
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?
Nondisjunction
Why the division is uneven?
The division is uneven resulting in 1 sperm/ovum having 24 & other 22
Is it possible if we fuse it with a normal sperm/ovum?
Yes, the zygote will have 47 or 45 chromosomes
Chromosome disorder in which part of the chromosomes breaks during cell division, causing the affected person to have a normal # of chromosomes and an extra portion of chromosome
Deletion abnormalities
A child gains an additional chromosome through another route
Translocation Abnormalities
when the nondisjunction disorder occurs after the fertilization of the ovum, as the structure begins mitotic cell division
Mosaicism
Chromosome accidentally divides not by a vertical separation but by a horizontal one, a new chromosome with mismatched long and short arms can result
Isochromosomes
extra chromosomes 13, severely cognitively challenged
Trisomy 13 syndrome or PATAU syndrome
males with extra X chromosomes and no development of secondary sex characteristics during puberty
Klinefelter Syndrome
they have 3 copies of chromosome 18 severely cognitively challenged, SGA, low-set ears, small jaw, congenital heart defects, misshapen fingers & toes, rocker-bottom feet
Trisomy 18
result of the missing portion of chromosome 5
Cri-du-chat syndrome
most frequently occurring chromosomal abnormality (1 in 800 pregnancies)
Down Syndrome
When paired with other genes, this gene is always expressed as?
Dominant
If blonde hair color is a recessive trait and one parent is heterozygous for the trait and the other parent is heterozygous for the trait, what are the chances that their offspring will have blonde-hair
50% (two in four)
