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40 Cards in this Set

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Meiosis
the process of two consecutive cell divisions resulting in 4 daughter cells each w/ a haploid set of chromosomes.
Metaphase
stage in mitosis or meiosis where chromosomes line up at the equatorial plate; CROSSOVER occurs here during meiosis 1.
Mitosis
nuclear division in cells that produces daughter cells identical to each other and to the parent cell
Pedigree
symbolic representation of an observed phenotype among members of a family throughout generations.
Recombination
Getting a combination of different genes from parents - occurs via crossing over.
Genetics:
The field of biology concerned with heredity and variation of organisms
Genomics:
Field of genetics concerned with structural and functional studies of the genome.
Marker
Gene or RFLP - identifiable physical location on a chromosome whose inheritance can be monitored.
4 Types of Genetic markers:
-Genes (blood groups)
-RFLPS
-SSLPs
-SNPs
What is an SSLP
Simple sequence length polymorphism
4 types of SSLPs
-Microsatellite
-CA repeat
-Short tandem repeat polymorphism (STRP)
-Simple sequence repeat (SSR)
What is an STRP?
Short Tandem Repeat Polymorphism
-Short repeats of 2,3, or 4 NTs
Where are STRPs found?
Distributed throughout vertebrate genomes
How are different forms SSLPs (simple sequence length polymorphisms) identified and distinguished?
Based on size
What will be seen in heterozygous individuals at a given SSLP?
2 different products
What migrates faster on a gel, larger or smaller fragments?
Smaller fragments = fastest
How are STRPs analyzed?
Via seperating out on gel based on size
How are SNPs analyzed? Why?
By genotyping; because only 1 NT difference isn't going to have a size difference to migrate differentially.
How many SNPs are in the genome?
2-3 million - 0.01% of the human genome is not identical.
What are 2 methods used for analysing INDIVIDUAL SNPs?
-Taqman assay
-Primer extension assays
What are 3 methods for genotyping MULTIPLE SNPs?
How many per technique?
-Mass spec: 5-10
-Array: 10K-500K
-Illumina bead array 1000-300K
3 Clinical uses for SNP genotyping:
-Clinical diagnosis
-Prenatal diagnosis
-Genetic counseling
Define Segregation
Genetic transmission from generation to generation
Cosegregation
Transmission of more than 1 locus together
Linkage
Transmittance of 2 neighboring alleles together on one chromosome more often than chance would predict.
2 Things that cause linkage:
-Distance between loci
-Recombination
Calculation for LOD score:
(1-decimal of recomb)^10
LOD=log------------------------
(0.5^10)
What does the LOD score tell you?
-If +3 = linked

-If -2 = not linked
What type of inheritance for Cystic Fibrosis?
Autosomal recessive
Why do we care about CF?
Most frequent lethal genetic disease of childhood
What techniques were used to determine the gene causing CF?
-Genetic linkage analysis
-Positional cloning
-Northern blot
What chromosome is the CF gene on?
7
What does the disease gene cause?
An abnormality in the Cl- channel
What is the most common variant of the CFTR gene?
F508
What is Huntington's disease?
Degenerative disorder of the brain with progressive dimentia and uncontrolled movement
What population is HD most common in?
Caucasions
What is the disease associated with huntington's disease?
Huntingtin
What is different about Huntingtin compared to CF?
It contains triplet repeat expansions and exons
What are the common features of triplet expansion syndromes?
-All effect the brain
-All are dominant
-All exhibit a threshold for the #repeats necess to cause disease
What kind of analysis is used for studying linkage analysis in large populations?
QTL - quantitative trait loci