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PATHO Test 2 - UTMB EXAM WITH COMPLETE SOLUTIONS

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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 pa...

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  • June 30, 2024
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  • 2023/2024
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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

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