Lecture 4 Inheritance Genetics Flashcards
What was Gregor Mendel responsible for creating?
The Principles of Inheritance
What are the three Principles of Inheritance?
Uniformity
Segregation
Independent Assortment
Define Gene (2 points)
A part of a DNA molecule that serves as a template for making a functionally important RNA molecule
A determinant of a character that is inherited in accordance with Mendel’s rules
Define Locus
A unique chromosomal location defining the position of an individual gene or DNA sequence
Define Allele
Alternative versions of a gene
Define Genotype
A list of alleles present at one or a number of loci
Define Phenotype
Observable properties of an organism
Define Homozygous
Both alleles are the same at a given locus
Define Heterozygous
Alleles are different at a given locus
Can Recessive phenotypes be seen in a heterozygous person?
No
Can Dominant phenotypes be seen in a heterozygous person?
Yes
Name the 5 archetypal Mendelian Inheritance patterns
Autosomal dominant
Autosomal recessive
X-linked dominant
X-linked recessive
Y-linked
What kind of genetic inheritance affects Herterozygotes?
Autosomal dominant (one copy of the gene is enough to cause the disease)
Give an example of an autosomal dominant disease
Polycystic Kidney Disease
What mutation causes Polycystic Kidney Disease?
PKD1-3
What is PKD1-3 responsible for normally?
Required for vascular development (mostly in the kidneys but other tissues can be affected as well)
What is the treatment for Polycystic Kidney Disease?
No treatment technically.
However dialysis is possible.
Otherwise the extreme is kidney transplant
He talks about the genetics of PKD1 at a molecular level
Ngl I dont have the notes for this except for a diagram so ahahaha need to come back to this later. Slide 13 out of 53
