"PLTW Principles of Biomedical Science: Unit 3" Study Guide
What is Huntington's Disease?
A disease causing the breakdown of nerve cells in the brain over time
What is Tay Sachs Disease?
A disease causing the destruction of nerve cells in the brain and spinal cord
What is Hemophilia?
A sex-linked recessive disease causing blood to clot abnormally
What is Best Disease?
An autosomal dominant disease causing blindness
What is Sickle Cell Anemia?
An autosomal recessive disease causing episodic blocking of blood vessels
What are the symptoms of Sickle Cell Anemia?
• Sickle cell crises •Anemia • Splenic Sequestration • Infections • Acute chest syndrome • Stroke • Eye problems • Avascular/aseptic necrosis • Hand foot syndrome
What is translation?
The process by which an mRNA strand is read by tRNA and used as a script for building amino acids
What is transcription?
The process by which part of a DNA strand is copied into an mRNA strand
How might mutations alter the shape of proteins?
They can change amino acids into ones that are hydrophilic/phobic and change how they react in different environments
What do hemoglobin A and hemoglobin B do?
They carry oxygen between diff. areas of the body
Why don't children (not identical twins) not look identical to their parents or siblings?
They have different genes
What is the purpose of karyotyping?
To determine genetic disorders
What are mRNA, tRNA, and rRNA?
mRNA is messenger RNA tRNA is transport RNA rRNA is ribosomal RNA
Where/how is variety amongst humans generated?
Crossing over and Independent assortment
How can chromosomal mistakes occur during meiosis?
Crossing over can move important genes over to other chromosomes like the SRY gene on the Y chromosome (coding for male gender) can get transferred over to the X chromosome and make someone with XX male and infertile
How does DNA work to code for proteins and traits?
It codes for different amino acids in codons which are used to build different proteins for building traits
Why might a disorder or trait be referred to as dominant/recessive and autosomal/sex-linked?
It'd be referred to as dominant/recessive depending on its inheritability and autosomal/sex-linked depending on how it is inherited
How are genetic orders detected prior to birth?
Karyotyping
How do genetic errors occur?
Mutations and errors in copying DNA
How do you predict the chance of a child inheriting a trait?
Punnet Square
What mutation in hemoglobin causes sickle cell anemia?
Glutamic acid ➡️ Valine
How is Sickle Cell Anemia diagnosed?
Hematocrit
How do amino acids being hydrophilic/phobic impact the shape of proteins?
Hydrophilic tries to hide from water and caves inwards into the cell whereas hydrophobic tries to be with the water and expands outwards
What is the structure of DNA?
Nucleotide, deoxyribose, and phosphorous
What are the stages of Mitosis?
Prophase Metaphase Anaphase Telophase
What are the stages of Meiosis?
Prophase I Metaphase I Anaphase I Telophase I Prophase II Metaphase II Anaphase II Telophase II
What types of genetic errors can be passed on?
Silent Normal Missense Nonsense
How do you make/analyze a pedigree?
You look to see how a genetic trait is inherited throughout a family tree
