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Pedigree Analysis on Achondroplasia
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Transcript
Achondroplasia
- Is a disease known in humans as dwarfism.
- This is caused by a mutation in the gene.
Pedigree Analysis on Achondroplasia
- The gene mutation affects the way the bone structure is.
- It is known to be associated with advanced paternal age.
Pedigree Analysis
- This pedigree is known to autosomal dominant. This means that the trait does not skip a generation.
- This trait is not sex linked and can be found in both male and females.
Being that this is such a deadly disease there are many still births in the pedigree analysis.
Dominant Trait
- One infected parent has a 50% chance of passing it on, yet almost 90% of patients have the disease spontaneously.
- This might be due to the nucleotide being the most mutated nucleotide known, the fact that two missense mutations can cause it, or that people with the disease do not easily reproduce.
Dominant Trait
Rebecca Bachan
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