Term
| Give both Hardy-Weinberg equilibrium equatons? |
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Definition
p + q = 1
p2 + 2pq + q2 = 1 |
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Term
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Definition
| Movement of an individual into an isolated population |
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Term
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Definition
| The loss of infrequent alleles due to small populations |
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Term
| What is non-random mating? |
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Definition
| Preference for certain characteristics and mates are selected based on how they display the characteristics |
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Term
| What is natural selection? |
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Definition
| The ability to pass on favorable genes to offspring as they allow the organism to survive |
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Term
| In what situations does Hardy-Weinberg not apply? |
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Definition
| Gene flow, genetic drift, non-random mating and natural selection |
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Term
| What approaches can we use to identify disease related genes? |
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Definition
| Family studies, genetic association, interactions and tumour studies |
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Term
| What is a family based approach? |
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Definition
| Track the cases of teh genetic disorder in the family to work out whether it is dominant, co-dominant or recessive. It can also be used to discover sex linkage. |
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Term
| What is a genetic association approach? |
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Definition
| Looking at an individual's SNP's and the phenotypes of that individual and comparing them to others with similar SNP's and phenotypes |
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Term
| What is the influence approach? |
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Definition
| Looking at whether a gene is faulty due to influences like the environment or the presence of another gene |
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Term
| Wat is the tumour study approach? |
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Definition
| Looking at whether the gene that caused the tumour was somatic of germline identifying if it is genetic or individual |
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Term
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Definition
| An online site that when given the genotype can present the searcher with the phenotype |
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Term
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Definition
| Areas on the genome that have a high level of guanine and cytosine bases and are used as genetic markers |
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Term
| What was the first gene to be mapped using linkage? |
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Definition
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Term
| How frequent is cystic fibrosis? |
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Definition
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Term
| What is the carrier frequency of cystic fibrosis? |
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Definition
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Term
| What does RFLP stand for? |
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Definition
| Restriction Frangment Length Polymorphisms |
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Term
| How do RFLP's aid in finding genetic disease? |
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Definition
| Can compare the types of RFLP's using an association coefficient and see which RFLP's overlap with the genetic disease the most |
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Term
| What is chromosome walking? |
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Definition
| Generating a library of a proposed gene and then looking at the overlaps to sequence it |
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Term
| How are the overlaps looked at during chromosome walking? |
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Definition
| Place the gene fragments in the bacterium vector. Then make a larger DNA fluorescent probe. Then see which two colonies of bacteria overlap |
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Term
| Which chromosome does the CF gene lie on? |
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Definition
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Term
| What does the CF gene code for? |
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Definition
| A faulty chloride channel in epithelial tissues |
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Term
| What causes the mutation in the CF gene? |
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Definition
| A three base deletion of the amino acid pheylalanine |
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Term
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Definition
| A set of linked polymorphic markers |
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Term
| What effects can variations in SNP's have? |
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Definition
| No effects, neutral effects or deletion effects (Intermediate or latent) |
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Term
| How do latent effects work? |
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Definition
| Particular SNP's may combine with environmental exposures to result in the individual becoming more susceptible to a particular disease. |
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Term
| What could a SNP map be used for? |
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Definition
| Diagnosing phenotypic problems that may occur in later life |
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Term
| What is the International Hapmap Project? |
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Definition
| An organisation that is mapping SNP's and Haplotypes to be used in drug treatments |
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Term
| How can SNP's be analysed? |
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Definition
| RFLP analysis, sequencing, DHPLC, TaqMan assay and bead chips |
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Term
| What is the problem with using RFLP analysis to analyse SNP's? |
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Definition
| It only works on a handful of SNP's |
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Term
| What is the problem with using sequencing to analyse SNP's? |
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Definition
| It's time consuming, costly and tedious. |
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Term
| How is DHPLC used to analyse SNP's? |
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Definition
| Take fragments of DNA containing the SNP. Use PCR to amplify the different fragments, the bases will then anneal differently to Watson-Crick pairing. Using gas chromatography the least stable SNP's will be detected first followed by the stable SNP's |
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Term
| What does DHPLC stand for? |
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Definition
| Denaturing High Performance Liquid Chromatography |
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Term
| What are the stages in TaqMan assay analysis of SNP's? |
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Definition
| PCR, FRET, and then 5' exonuclease activity PCR |
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Term
| What does FRET stand for? |
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Definition
| Florescence Resonance Energy Transfer |
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Term
| What is the composition of Flurophore A? |
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Definition
| Excitation wavelength X and emission wavelength Y |
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Term
| What is the composition of Flurophore B? |
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Definition
| Excitation wavelength Y and emission wavelength X |
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Term
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Definition
| By producing a fluorescent glow dependent on whether the wavelength of A is absorbed by B or reflected |
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Term
| How does 5' exonuclease activity PCR work? |
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Definition
| After each flurophore oglionuceotides have been added into the PCR mix the TAQ polymerase enzyme will synthesise new DNA until it comes to the SNP. If the oglionuceotide has annealed it will release one colour and the person is homozygous for that gene. A heterozygous individual will release both vairiations of the oglionucleotide and therefore has both SNP's |
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Term
| How does using bead chips analyse SNP's? |
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Definition
| The whole genome is amplified, place SNP primers onto a bead chip, extend and stain the DNA from the bead chip, read the chips in the scanner and identify if SNP's are present |
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Term
| How does the GWAS approach work? |
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Definition
| Take sample and analyse for SNP's using assay techniques, compare and correlate SNP's with other individuals SNP's to identify problems |
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Term
| What does GWAS stand for? |
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Definition
| Genome-Wide Association Study |
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Term
| How can the GWAS information be used? |
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Definition
| Information about patients genetic diseases, tracking how humans have evolved and the pathways that will lead to particular phenotypes |
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Term
| SNP mapping has also been used in which other organisms? |
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Definition
| Dogs and the salmonella bacterium |
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Term
| How is the information collected for GWAS? |
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Definition
| Volunteers and individuals who wish to pay to have their genome sequenced |
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Term
| What are the downsides to genome sequencing? |
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Definition
| Insurance companies using the information to increase the cost of an individuals life insurance and 'Designer Babies' |
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