Medical Genetics
When something goes wrong
Example
- Chromosome 11
- Nucleotide 5226970 is A, C, or G instead of T
- result: an early termination of gene transcript (not full length)
- occurs in gene for hemoglobin subunit beta; normal protein has two beta and two alpha subunits, and is bound to a heme (the iron-containing molecule) - resulting in low hemoglobin levels a shortage of red blood cells - causing a condition known as beta thalassemia (related to sickle cell anemia)
Types of Variants (not Mutations)
- missense
- nonsense
- silent
- frameshift
- insertion
- deletion
- indel
- splice-site
- duplication
- large structural variants
- copy number
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