Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
40 Cards in this Set
- Front
- Back
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
|