PATHO Test 2 - UTMB EXAM WITH COMPLETE
SOLUTIONS
Primary Function of Respiratory system
- gas exchange with oxygen from the air being tranferred to the blood and carbon dioxide
genome
all of the genetic info in an organisms DNA
Chromosomes
Where the basic genetic info is stored. 23 pairs or 46 chromosomes.
Female = XX
Male = XY
DNA Molecule
- double stranded helix
- stored within nucleus
- stores genetic information
Nitrogenous bases
Pyrimidine bases
- Thymine
- Cytosine
Purine bases
- Adenine
- Guanine
These make up the "alphabet" of the genetic code. Universal Language; found in all - bacteria, plants,
& animals.
Gene
Sequence of amino acids that determine genetic characteristics
human genome is 99.9% the same for all of us
Polymorphism
- Variations in genes
IE: curling tongue, free hanging earlobe
Gene Expression
Induction:
Process by which gene expression is increased. Normally there is an external influence.
Repression- a regulatory gene that reduces or prevents expression.
,Allelle
Genes may have more than one normal expression.
EX: ABO blood
Mutation
- errors in duplication (addition, loss, rearrangement of pairs)
-usually accidentally
- can be inherited in X&Y chromosomes
Causes
- radiation
- chemicals
Role of DNA
Determines the type of biochemical product the cell makes.
RNA
- single stranded
- 3 types
- Messenger RNA- gives instructions
- Transfer RNA - delivering amino acids to where they will be synthesized
- Ribosomal RNA - begins protein synthesis
Genotype
The genetic info stored in the triplet code. WE DO NOT KNOW THIS.
ie: being BB for brown eyes
Phenotype
The physical trait that you can actually observe
ie: brown eyes.
Expressivity
- Some genes are more severe in certain people varies from person to person.
Penetrance
The ability of a gene to express itself in a population where everyone has the gene.
75% penetrance means 75% of pop will have the trait
Polygenic
There are multiple genes at different loci (places), each of them exerts an additive effect. NO
ENVIRONMENTAL INFLUENCE
ie: some eye colors, skin colors
, Multifactorial
Multiple alleles at different loci, but this includes environmental effects.
ie: height, diabetes, obesity - different factors such as nutrition
Mendel's Laws
The predictability of gene transmission when a SINGLE genetic expression is at work.
You have 50% chance of inheriting dominant gene from parent
Carrier
Just needs one dominant
Single Gene Disorderd
Caused my defective gene at one locus (place).
Marfan Syndrome
- Autosomal dominant disorder
- Affects - ocular, cardiovascular and skeletal system
- Symptoms
- long extremities
- spinal issues -
kyphosis,scolliosis
- pigeon chest
- CARDIAC PROBS - most severe
- They think Abraham Lincoln had this
Hemophilia
- Sex linked disease
- Blood not clotting normally
- Factor VIII (8)
- women unlikely to get this even if they have the trait
Multifactorial Inheritance Disorders
- multiple factors involved
- Congenital disorders - can be genetic and enviromental
- cleft lip
- clubfoot
- congenital heart disease
- Environmental factors- you can delay or prevent these
- Cancer
- Bipolar
SOLUTIONS
Primary Function of Respiratory system
- gas exchange with oxygen from the air being tranferred to the blood and carbon dioxide
genome
all of the genetic info in an organisms DNA
Chromosomes
Where the basic genetic info is stored. 23 pairs or 46 chromosomes.
Female = XX
Male = XY
DNA Molecule
- double stranded helix
- stored within nucleus
- stores genetic information
Nitrogenous bases
Pyrimidine bases
- Thymine
- Cytosine
Purine bases
- Adenine
- Guanine
These make up the "alphabet" of the genetic code. Universal Language; found in all - bacteria, plants,
& animals.
Gene
Sequence of amino acids that determine genetic characteristics
human genome is 99.9% the same for all of us
Polymorphism
- Variations in genes
IE: curling tongue, free hanging earlobe
Gene Expression
Induction:
Process by which gene expression is increased. Normally there is an external influence.
Repression- a regulatory gene that reduces or prevents expression.
,Allelle
Genes may have more than one normal expression.
EX: ABO blood
Mutation
- errors in duplication (addition, loss, rearrangement of pairs)
-usually accidentally
- can be inherited in X&Y chromosomes
Causes
- radiation
- chemicals
Role of DNA
Determines the type of biochemical product the cell makes.
RNA
- single stranded
- 3 types
- Messenger RNA- gives instructions
- Transfer RNA - delivering amino acids to where they will be synthesized
- Ribosomal RNA - begins protein synthesis
Genotype
The genetic info stored in the triplet code. WE DO NOT KNOW THIS.
ie: being BB for brown eyes
Phenotype
The physical trait that you can actually observe
ie: brown eyes.
Expressivity
- Some genes are more severe in certain people varies from person to person.
Penetrance
The ability of a gene to express itself in a population where everyone has the gene.
75% penetrance means 75% of pop will have the trait
Polygenic
There are multiple genes at different loci (places), each of them exerts an additive effect. NO
ENVIRONMENTAL INFLUENCE
ie: some eye colors, skin colors
, Multifactorial
Multiple alleles at different loci, but this includes environmental effects.
ie: height, diabetes, obesity - different factors such as nutrition
Mendel's Laws
The predictability of gene transmission when a SINGLE genetic expression is at work.
You have 50% chance of inheriting dominant gene from parent
Carrier
Just needs one dominant
Single Gene Disorderd
Caused my defective gene at one locus (place).
Marfan Syndrome
- Autosomal dominant disorder
- Affects - ocular, cardiovascular and skeletal system
- Symptoms
- long extremities
- spinal issues -
kyphosis,scolliosis
- pigeon chest
- CARDIAC PROBS - most severe
- They think Abraham Lincoln had this
Hemophilia
- Sex linked disease
- Blood not clotting normally
- Factor VIII (8)
- women unlikely to get this even if they have the trait
Multifactorial Inheritance Disorders
- multiple factors involved
- Congenital disorders - can be genetic and enviromental
- cleft lip
- clubfoot
- congenital heart disease
- Environmental factors- you can delay or prevent these
- Cancer
- Bipolar
