BIO 1030 Lecture Notes - Lecture 36: Sickle-Cell Disease, Chromosome, Cri Du Chat

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BIO 1030 Lecture 36
Genes and gene mutations
oChange in the sequence of bases in a gene
oCauses
Replication error
Rare, due to proofreading
Transposons
Jumping genes- pieces of DNA that move within and between
chromosomes
Mutagens
Environmental influences – radiation
Chemical mutagens
Repair enzymes
Types and effects of mutations
oMany mutations go undetected- no observable effect
oPoint mutations
Change in single DNA nucleotide
Results can be minor or severe
Sickle cell disease
oFrameshift mutations
Extra or missing nucleotides
Usually much more severe
All downstream codons affected
Chromosomal mutations
oIn humans, only a few variations in number are typically seen
Down syndrome, turner syndrome
oChanges in chromosome structure are more common
Due to breakage and failure to reunite properly
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