Human molecular genetics
11 important questions on Human molecular genetics
Describe mitochondrial DNA
16k base pairs and 37 genes
all from the mother because all of your mitochondria come from your mother
What were the findings of the Human Genome Project
All humans are 99.9% similar at sequence level, regardless of race or ethnicity. African genomes vary most.
Outline what we can learn about genomes using comparative genomics
Things in common are called ‘conserved’ and may encode biology in common between species.
Things that are different may encode organism specific biology.
So by comparing genomes you learn a little about which bits of the genome do what.
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Outline how comparing genomes helps us understand human biology
Differences might be associated with:
-disease
-characteristics of an individual § evolutionary history
Comparing genomes within a species can help us identify variants that
might be related to phenotype.
Comparing genomes with other species can help us identify variants related to the biology of an organism.
We are now able to compare the genomes of our closest living and extinct relatives
What is a loss of function mutation
are often recessive, because a normal copy of the gene exists on the other chromosome which can replace the lost function
What is a gain of function mutation
often dominant, because having an allele that works too well or does something novel, will not be replaced by the normal copy of the gene.
What is a polygenic disorder
Give examples of single gene disorders
- Huntington disease - autosomal dominant
- Cystic fibrosis - autosomal recessive
How do you get information about the function of a gene from the phenotype
or by creating organisms mutant for that particular gene
What are the parts of a transgene
connected to the targeted DNA sequence
What does CRISPR stand for
regularly
interspaced
short
palindromic
repeats
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