L24 Flashcards
(12 cards)
What are germline mutations?
Mutations that are inherited
How are somatic mutations occur?
damage or incorrectly copied DNA and not passed onto next generation
What do mutations do?
-driving force for evolution
-mutations can be beneficial, no effect or deleterious
What can a mutations outcome be depended on?
Environmental effects eg diet exposure to toxins
Other genes (genetic background)
What is a loss of function mutation?
-Loss of function mutations are often recessive, because a normal copy of gene exits on the other chromosome which can replace the lost function
What is a gain of funtion mutation?
Often dominant, because having an allele that works too well or does something novel will not be replaced by the normal copy of gene
Polygenic disorder involve several genes…
acting together or environmental factors interacting with genes
What are some examples of polygenic disorders
-Obesity
-Diabetes
-rheumatoid athritis
Are genes deterministic?
no, most genetic disorders are probabilistic
Examples of single gene disorders
-Haemophilia (x linked recessive)
-Hunting disease (autosomal dominant)
-Cystic fibrosis (autosomal recessive)
What are the classifications of mutations?
-Dominant vs recessive
- loss vs gain of function
