Intro to Medical Genetics Flashcards
1
Q
Why are Medical Genetics important?
A
Understanding the genetic basis for disease and
application of this knowledge for diagnostic and treatment purposes
2
Q
Chromosomes, genes & alleles
A
3
Q
What is gene expression and why is it important?
A
4
Q
What is alternate splicing?
A
- Allows for greater biodiversity in terms of protein production from DNA material
- Can be detrimental, however, if this process malfunctions (e.g. overexpression of
unfavourable splice variants has been implicated in cancer).
5
Q
How do defects in genes cause disease?
A
Mutation (Insertion, Deletion, Substitution) = Defective genetic material = defective protein product
6
Q
How are mutations inherited?
A
- Monogenic (Mendelian Inheritance) disorders
- Polygenic (Multifactorial disorders, involving multiple genes & environmental influences
7
Q
Monogenic Disorders
A
- Caused by errors in a single gene
- Several patterns of inheritance can result
depending on the chromosome affected and
whether two or one copy of the gene is defective - Inherit two units of inheritance (one
from each parent). Each unit of inheritance is
termed an allele - Mendelian Inheritance
8
Q
X-linked recessive disorders
A
- Muscular Distrophy
9
Q
Autosomal recessive disorders
A
- Cystic fibrosis
- Sickle cell disease
10
Q
Autosomal dominant disorders
A
11
Q
Polygenic / multifactorial disorders
A
- Believed to represent the combined effect of several genes
- Potentially interacting with environmental factors
- Epigenetic involvement/imprinting
- Type 2 Diabetes, CVD, Alzheimer’s etc
12
Q
A
