Term
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Definition
21k genes are 1.5% of genome
2/3rds of genes conserved across species
99.9% indentical |
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Term
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Definition
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Term
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Definition
- Present in <1% of population
- Causes change of function; unique trait or disease
- Rare because of selective pressure
- Can occur at any level |
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Term
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Definition
- >1% of population
- more common because no selective pressure
- usually in non-coding areas
- Mostly in micro level
- Great for gene discovery or prognostic tests |
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Term
| Levels of Genetic Variation? |
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Definition
Genomic (Chromosomal Number)
Chromosomal Level (Chromosomal Structure)
Gene Level (coding, regulatory, intronic) |
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Term
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Definition
A change in number of chromosomes, genomic level variation, usually due to mis segregation
Downs (+21), Kleinfleter (+X) Turner Monosomy X and cancers |
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Term
| Chromosomal Level Variation |
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Definition
Chromosomal structure altered, improper chromosome alignment
ie: Cri Du chat from Chromosome 5 p arm deletion |
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Term
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Definition
Change within a locus
Failed repair of DNA damage or faulty DNA replication
Alzheimers/DMD, Huttington Disease, Sickle Cell, cancer |
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Term
| Intergenic v Genic region |
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Definition
| Between versus actual gene region |
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Term
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Definition
Missense; different AA
Nonsense; stop codon instead of AA |
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Term
| Possible effects of polymorphisms (5) |
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Definition
No consequences
Affect gene transcription quantitatively/qualitatively
Affect gene translation quant/qualt
Change protein structure/functions
Change regulation |
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Term
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Definition
| Restriction Fragment Length Polymorphisms, if you have a different polymorphism it wont be recognized and cleaved so you get different bands |
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Term
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Definition
Single nucleotide polymorphism
12 million identified in 5 completely sequenced genomes
Impact on disease, environmental and drugs response
Evolutionarily stable |
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Term
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Definition
Apoliprotein E is a risk factor for Alzheimers disease; E2,3,4 Allele
E4 associated with increased Alzheimers risk |
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Term
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Definition
7-300 bp motif repeated many times
aka minisattelite repeats
Arise from unequal crossing over
Allelic variants have diff #of repeats
Detected using enzymes and probes |
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Term
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Definition
Short Tandem repeat Polymorphisms
Microsattelites
2-4 bo repeats
Abundant and evenly distributed
# may differ in homologous chromosomes in the same individual |
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Term
| Trinucleotide repeat expansion |
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Definition
Increase the number of repeats, many diseases
ex; Huttingtons or Kennedy Disease |
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Term
| Copy Number Polymorphisms (what and how are they identified) |
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Definition
1) Variation in number of copies of a 200bp to 2mb sequence within DNA
2) Use CGH to screen for gains and losses, (florecescen ratio on chip) |
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Term
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Definition
| A combination of alleles along a chromosome that tend to be inhereited as a unit, thus exhibits linkage disequilibrium |
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Term
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Definition
| Alleles inherited together more often than would be predicted |
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Term
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Definition
| Whole Genome Association Study; use SNPS that are highly found to find areas of interest for particular treat or disease in a population |
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