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GTS 368 - Coggle Diagram
GTS 368
Genetic Diseases
Single-gene
- Mandelian patterns
- Cystic Fibrosis
- DNA changes
-
Chromosomal
- Number/ structural changes
- loss/gain ch/seh
- Down Syndrome
Acquied Somatic
- Mutations after birth
- Only certain cells
- Cancer
Genetic Variation
Mutations
- Errors during replication
- Spontaaneuros endogenous chem processes
- Hydrolytic damage = removal of bases
- Oxidative damage = DNA strand breaks
- External phys/chem damage =dimers
Point Mutations
Consequences
- Nonsynonymous, replace AA
- Effect on reg region, reduced/increased #of product
- PTC, nonsense-mediated decay/truncated protein
- W/in splice site = exon skipping/intron retention
- Activate cryptic splice sites
- Deletions/insertions
- Change in copy#
Types
- Missense = diff AA
- Nonsense = pre-mature stop codon
- Stop-loss = Stop codon replaced w AA codon
Repeats
In Non-coding regions
- Trinucleotide repeats
- Loss of function effect
- Anticipation
- recomb w/in mismatched seq
- Distrantly spaced direct repeats can mispair
- Diseases
- Fragile-X
- N: 5-54, P:55-199, D:>200
- CGG
- Mayortonic dystrophy - DM1
- Friedreich Ataxia
Coding regions
- Poly G-expansion
- CAG expansion
- in exon due to strand slippage
- during replication
- N: 10-35, D: 50-100s
- gain of function
- Anticipation
- Poly A-expansion
- GCG/GCA/GCT = Alanine
- not polymorphic
- N:<20, D:22-29
- unequal recomb
- loss of function
- not anticipation
Unstable
- Pre/full mutations
- Disease = size of repeat > normal
- Normal >> pre-mutation>> Full mutation
- Anticipation
-
Chromosomes
Abnormalities
Numerical
- Euploidy (N)
- Polyploidy
- triploidy (1+ set)
- tetraploidy (2+ sets)
- Aneuploidy
- Trisomy (1+ chr)
- Monosomy (1- chr)
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