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clinical care plan on PTSD for mental health nursing course 234

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  • August 5, 2024
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CHAPTER 6 – GENETIC DEVELOPMENTAL DISORDERS

Genetic System Components

v Deoxyribonucleic acid (DNA)

v Ribonucleic acid (RNA)

v Genes

v Chromosomes

Genetic Code #1

v Genes on specific chromosome locations provide information for the
production of proteins.

v Sequence of 3 DNA nitrogenous bases forms a codon, transcribed and
translated by RNA to produce a single amino acid

Chromosomes

v Double-stranded DNA in cell nucleus

o 22 pairs of autosomes

o 1 pair of sex chromosomes

v Contain genetic information of an individual

Genetic Replication #1

v Mitotic cell division

o Somatic cell division resulting in two identical daughter cells.

o Each cell contains 23 pairs of chromosomes (diploid).

v Meiotic cell division

o Gamete sex cell division (ovum, sperm).

o Each cell contains 23 single chromosomes (haploid).

,Trait Inheritance

v Genotype

v Phenotype

Genetic Mutations

v Deletion

v Duplication

v Inversion

v Insertion

v Translocation

Single Gene Trait Inheritance

v Mendelian pattern of predictable trait transmission

v Chromosome alleles

o Homozygous

o Heterozygous

v Allele expression

o Dominant

o Recessive

Genetic Inheritance Patterns #1

v Autosomal dominant

v Autosomal recessive

v Sex-linked dominant

v Sex-linked recessive

, v Mitochondrial gene disorders

Genetic Inheritance Patterns #2

v Autosomal dominant

o Mutation located on the autosome

o Inheritance of a mutation involving one dominant allele results in
expression of the trait

Genetic Inheritance Patterns #3

v Autosomal recessive

o Mutation located on the autosome.

o Inheritance of a mutation involving two recessive alleles results in
expression of the trait.

o Inheritance of a mutation involving one recessive allele results in
carrier status for the trait.

Genetic Inheritance Patterns #4

v Sex-linked

o Mutation located on the sex chromosomes

o Gender difference in inheritance

§ Most are linked to the X chromosome.

§ Males are more likely to be affected.

Genetic Inheritance Patterns #5

v Mitochondrial gene disorders

o Related to energy production

o Matrilineal inheritance

, o Not passed on by men

o Heteroplasmy

Inheritance of Polygenic Disorders

v Multiple alleles at different chromosome locations affect phenotype

v Complex interaction of multiple factors

v Environmental influences (height)

v Less predictable pattern

v Monosomy (Turner syndrome)

v Trisomy (Down syndrome)

Chromosomal Alterations #1

v Detected by karyotype

Chromosomal Alterations #2

v Alteration in chromosome number

o Nondisjunction

§ Mosaicism

§ Monosomy

§ Trisomy

Chromosomal Alterations #3

v Alteration in chromosome structure

o Translocation

Epigenetic Inheritance

v Environmental and metabolic agents

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