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Main function of genes
coding for synthesis of proteins that influence all aspects of body traits and function.
Permanent proteins ex
Eye pigment, hair color, blood type
Day to day functional proteins ex
Hormones, antigens, antibodies, enzymes, etc
How a chromosome is formed
A sequence of nucleotide bases forms a gene
genes make up a DNA molecule
that DNA molecule forms into a specialized shape called a chromosome
How many pairs of chromosomes do we have?
23 pairs
How many pair(s) of sex chromosomes do we have?
1
Alleles
Are almost exactly alike, but can be dominant or recessive or both
What is GG considered?
Homozygous dominant
what is gg considered ?
Homozygous recessive
What is Gg considered?
Heterozygous
Genotype
Overall genetic composition refers to a specific set of alleles
Phenotype
A persons observable characteristics
What are the four different kinds of genetic disorders ?
Mitochondrial DNA, multi factorial, chromosomal, and single gene
Mitochondrial DNA disorder
Small bits of DNA can be found in the mitochondria
Is very uncommon
Multifactorial genetic disorders
combination of environmental triggers and variations / mutations of genes, plus sometimes inherited tendencies
Teratogenic disorders
any influence — eg, drugs, radiation, viruses-- that can cause congenital defects
Happens to baby due to mothers actions
Chromosomal disorders
type of genetic disorder that results from alterations to the development or structure of a chromosome, which in turn alters the “local” genes -the genes’ functionality is disrupted and they don’t code proteins correctly, giving rise to the phenotype ( S&S ) of the disorder.
Down syndrome is caused by the alteration of what?
The numbers of chromosomes
Happens to sometimes women >35 y/o
Fetus ends up with an extra chromosome that occurs at site 21
What is another name for Downs?
Trisomy 21
What is the phenotype of trisomy 21?
Mental retardation, lowest ears, epicanthic fold to eyes, short limbs, larger than normal tongue
The Philadelphia chromosome is considered what kind of alteration?
Alteration to the structure of chromosomes
Ex. Deletion, duplication, translocation
Single gene disorders
Usually due to an inherited mutated gene (are the only ones w a recognizable pattern)
Can be autosomal recessive, autosomal dominant, and sex linked
Autosomal recessive disorder
Occurs when a mutated recessive gene partners up w an allele that is also recessive
They must both be recessive
What is an example of an autosomal recessive disorder?
Sickle cell anemia
what are the S&S of sickle cell anemia?
SOB, weakness, fatigue, ischemic pain
Anemia
Less than normal numbers of RBCs
Ischemic pain
Pain in the tissue that is not getting enough oxygen, insufficiency to receive O2
Autosomal dominant disorders
Occurs when a person inherits a mutated, diseased gene that is dominant
Both homozygous dominant and heterozygous can be affected
What dz can be caused by autosomal dominant disorder?
Polycystic kidney disease (PKD)
What are the S&S of polycystic kidney disease?
Hematuria, proteinuria, frequent kidney infections, pain at costovertebral angles and abdomen, kidney stones
Recombinant DNA
“new” DNA that results from purposefully combining two or more different sources of DNA