Summary: Cell Physiology And Genetics Class Notes
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Sickle cell disease genetics and molecular biology of thalassemia
This is a preview. There are 3 more flashcards available for chapter 17/02/2014
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What happens in red blood cells with sickle cell disease?
In the globin a glutamic acid on the 6th position is substituted with a Valine. -
Is a disease always genetic?
Other options are: epigenetics, gene-gene interactions (epistases), chromosome mutations, developmental noise, enviromental influence. -
What are the constrains studying human genetics?
It is considered unethical to breed humans.
Monozygotic twins are a solution though. They start with the same genetic material but the environment influences both different. -
What is incomplete expressivity?
Incomplete expressivity is when traits, like hair colour, express in combination with each other and in a quantitative way. -
What are the inheritance properties of sickle cell anaemia?
It is a recessive allele on an autosomal chromosome. -
Duchenne muscular distrophy genetics and molecular biology
This is a preview. There are 17 more flashcards available for chapter 19/02/2014
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On what chromosome is the mutation causing Duchenne placed?
Duchenne is a sex linked disease and is probably located on the X chromosome. -
What seqeunces are prone to break easily in the DNA?
Short repettative sequences. -
What happens mostly with a deletion that causes a frameshift?
The cause a premature stop codon, terminating the mRNA transcription. -
What is so special about distrophy?
The gene is huge compared to other genes. It's half the size of the complete E-Coli DNA. -
What is the principle of linkage mapping?
When to genes are tightly linked and will be passed on together.
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