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40 Cards in this Set
- Front
- Back
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Meiosis
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the process of two consecutive cell divisions resulting in 4 daughter cells each w/ a haploid set of chromosomes.
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Metaphase
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stage in mitosis or meiosis where chromosomes line up at the equatorial plate; CROSSOVER occurs here during meiosis 1.
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Mitosis
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nuclear division in cells that produces daughter cells identical to each other and to the parent cell
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Pedigree
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symbolic representation of an observed phenotype among members of a family throughout generations.
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Recombination
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Getting a combination of different genes from parents - occurs via crossing over.
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Genetics:
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The field of biology concerned with heredity and variation of organisms
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Genomics:
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Field of genetics concerned with structural and functional studies of the genome.
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Marker
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Gene or RFLP - identifiable physical location on a chromosome whose inheritance can be monitored.
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4 Types of Genetic markers:
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-Genes (blood groups)
-RFLPS -SSLPs -SNPs |
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What is an SSLP
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Simple sequence length polymorphism
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4 types of SSLPs
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-Microsatellite
-CA repeat -Short tandem repeat polymorphism (STRP) -Simple sequence repeat (SSR) |
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What is an STRP?
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Short Tandem Repeat Polymorphism
-Short repeats of 2,3, or 4 NTs |
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Where are STRPs found?
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Distributed throughout vertebrate genomes
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How are different forms SSLPs (simple sequence length polymorphisms) identified and distinguished?
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Based on size
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What will be seen in heterozygous individuals at a given SSLP?
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2 different products
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What migrates faster on a gel, larger or smaller fragments?
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Smaller fragments = fastest
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How are STRPs analyzed?
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Via seperating out on gel based on size
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How are SNPs analyzed? Why?
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By genotyping; because only 1 NT difference isn't going to have a size difference to migrate differentially.
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How many SNPs are in the genome?
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2-3 million - 0.01% of the human genome is not identical.
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What are 2 methods used for analysing INDIVIDUAL SNPs?
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-Taqman assay
-Primer extension assays |
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What are 3 methods for genotyping MULTIPLE SNPs?
How many per technique? |
-Mass spec: 5-10
-Array: 10K-500K -Illumina bead array 1000-300K |
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3 Clinical uses for SNP genotyping:
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-Clinical diagnosis
-Prenatal diagnosis -Genetic counseling |
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Define Segregation
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Genetic transmission from generation to generation
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Cosegregation
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Transmission of more than 1 locus together
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Linkage
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Transmittance of 2 neighboring alleles together on one chromosome more often than chance would predict.
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2 Things that cause linkage:
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-Distance between loci
-Recombination |
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Calculation for LOD score:
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(1-decimal of recomb)^10
LOD=log------------------------ (0.5^10) |
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What does the LOD score tell you?
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-If +3 = linked
-If -2 = not linked |
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What type of inheritance for Cystic Fibrosis?
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Autosomal recessive
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Why do we care about CF?
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Most frequent lethal genetic disease of childhood
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What techniques were used to determine the gene causing CF?
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-Genetic linkage analysis
-Positional cloning -Northern blot |
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What chromosome is the CF gene on?
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7
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What does the disease gene cause?
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An abnormality in the Cl- channel
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What is the most common variant of the CFTR gene?
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F508
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What is Huntington's disease?
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Degenerative disorder of the brain with progressive dimentia and uncontrolled movement
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What population is HD most common in?
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Caucasions
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What is the disease associated with huntington's disease?
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Huntingtin
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What is different about Huntingtin compared to CF?
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It contains triplet repeat expansions and exons
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What are the common features of triplet expansion syndromes?
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-All effect the brain
-All are dominant -All exhibit a threshold for the #repeats necess to cause disease |
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What kind of analysis is used for studying linkage analysis in large populations?
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QTL - quantitative trait loci
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