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27 Cards in this Set
- Front
- Back
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Non-coding SNP
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present in non-transcribed regions - intron
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Coding SNP's
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located in coding regions - exon
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Replacement SNPs
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1. Amino Acid change
2. Nonsense mutation - ends early 3. REad-through mutation - doesn't stop |
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Nonreplacement SNPs
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affect gene function w/no AA acid change
- altering transcriptional regulation - splicing - mRNA stability - |
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How are SNP's discovered?
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by comparing sequences from the same region from different DNA samples
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Haplotype
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pattern of linked SNPs within the same region of a chromosome - blocks are physically linked - passed down in one big group
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Structural Variation - CNV
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Copy Number Variant - segment of DNa that is 1000 bases or larger, present at a variable copy number in comparison with a reference genome.
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CNV's refer to:
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gains and losses of DNA
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What causes CNV's
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non-allelic homologous recombination that occurs during meiosis
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How are CNV's detected?
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CGH: Comparitive Genomic Hybridization
454 Pyrosequencing - gene fragmented, ends aligned, ends should be 3000 bp apart |
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CNV's have the biggest impact by influencing:
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gene dosage
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Complex Disease
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caused by a combination of genetic, environmental and lifestyle factors - do not follow simple pattern of inheritance - also called Multifactorial Diseases
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Genome Wide Association Studies
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common complex diseases are caused by a collection of common genetic variants that are present in the population
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If a SNP allele frequency is the same in two groups, then the SNP is _______ associated with the disease
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NOT
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Exome sequencing disadvantages
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- won't be helpful for phenotypes caused by epigenetic factors
- may miss CNVs and gene dosage problems |
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CYP gene
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discovered by Venter, involved in metabolizing medications - important in pharmacogenetics (Science of how one's genome affects their response to drugs)
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Advantages of Pharmacogenetics
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- safer drugs
- appropriate doses - more accurate medicine - fewer side effects - decrease in cost of health care |
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Genetic screen
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genotyping for a particular population w/o any diagnostic info
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Genetic test
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genotyping ordered by a physician
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Genome Scan
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sequencing for a specific # of SNPs
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Genome sequencing
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entire genome sequenced
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Epigenome
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unique collection of modifications of the nucleotides an associated proteins - all modifications to the chromatin of a cell
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Epigenetics
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study of heritable changes in gene function that are not due to a change in DNA sequence
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Main types of epigenetic mechanisms:
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1. Methylation
2. Histone tail modification 3. Chromatin binding patterns 4. non-coding RNA's |
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Methylation
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best known epigenetic mechanism - methyl groups added to cytosines, usually results in loss of function
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Normal epigenetic roles
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1. x-inactivation
2. cell differentiation 3. imprinting 4. gene regulation in response to environmental factors |
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Imprinting
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epigenetic marks made during embryonic development
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