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56 Cards in this Set

  • Front
  • Back
What are Alleles?
Alternative forms of a genetic locus
How do we inherit alleles from our parents?
1 from each parent for each gene, so we get 2 total alleles.
What are autosomes?
Chromosomes not involved in sex determination.
How many autosomes are in the human genome?
44 (22 pairs)
Don't humans have 46 chromosomes?
Yes, the other two are sex Ch's
What does diploid refer to?
A complete set of 2 copies of DNA chromosomes, one from each parent
What is a Gene?
An ordered sequence of nucleotides located in a particular position, on a particular chromosome, that encodes a specific functional product.
What is a Genotype?
The genetic complement that an organism inherits from its parents.
What does genotype mean when you're talking about 1 gene?
The particular allelic complement that is at that locus.
What is Haploid?
A single set of chromosomes, which is what is in gametes (oogonia, spermatogonia).
What does Heterozygous mean?
A person has 2 different alleles at one locus on paired chromosomes.
What does homozygous mean?
A person has the same allele at one locus on paired chromosomes.
What are paired chromosomes called?
Homologous chromosomes
What is a locus?
The position of a gene on a chromosome.
What is a marker?
An identifiable physical location on a chromosome whose inheritance can be monitored.
What are 2 examples of markers?
What is a phenotype?
The manifold biological appearances of an organism.
Can genotype change through an organisms lifespan? Phenotype?
Genotype, no
Phenotype, yes
What is Polymorphism?
The difference in DNA sequences among individuals
What would be a useful polymorphism for genetic linkage analysis?
Genetic variations occurring in more than 1% of the population.
What is a gamete?
Haploid set of one full set of parent's DNA combined and paired into one set of 23 chromosomes
How many chromosomes do humans have?
What is a zygote?
The fusion of 2 gametes which produces a cell with 46 chromosomes.
When does crossing over occur?
During meiosis in gametogenesis, when maternal and paternal DNA are joined to create a haploid gamete for the ova and sperm.
What is crossing over?
The breaking of a chromosome and exchange of that piece with the same from the other parental chromosome.
What is recombination?
the process by which progeny derive a combination of genes different from their parents', and achieved by crossing over.
When during cell stages does crossing over occur?
During the metaphase stage of meiosis one in gametogenesis.
What is a centimorgan?
A unit of measurement that lets us describe the frequency of recombination.
What does one centimorgan infer?
A 1% frequency of crossing over at a specific gene locus.
What happens to linked genes when crossing over occurs?
They become unlinked
What is linkage?
The proximity of two genes to each other - or a gene and a marker, like a RFLP and a disease gene.
What increases the chance of inheriting a linked gene and RFLP together?
Decreased distance between the two.
How do we measure the distance between genes?
By measuring their recombination frequency, which is represented by the centimorgan.
So what is a genetic map?
A map of the relative positions of genes in relation to each other, based on their recombination frequencies.
Genetics definition:
The field of BIOLOGY concerned with the heredity and variation of organisms
The field of GENETICS concerned with STRUCTURAL and FUNCTIONAL studies of the GENOME.
What do Genetic Markers allow us to do?
Observe which allele of a chromosome is inherited from a parent to a child.
What method using genetic markers allows us to see inheritance?
Linkage analysis
4 types of Gene markers:
-Simple Sequence Length Polymorphisms (SSLPs)
-Single Nucleotide Polymorphisms (SNPs)
What are Microsatellites, CA repeats, Short tandem repeats, and simple sequence repeats all examples of?
Simple Sequence Length Polymorphisms SSLPs
What are Nucleotide substitutions and insertions or deletions?
Single nucleotide polymorphisms SNPs
What are Short Tandem Repeat polymorphisms?
Short repeats of 2,3, or 4 nt's
Where do we find STRs in life?
Randomly throughout vertebrate genomes
How can different STRPs be differentiated?
By their SIZE
What will a person that is heterozygous for STRPs at 1 genetic locus produce?
2 different products - which show up as 2 different markers on a gel electrophoresis.
What migrates the farthest on a gel, heaviest (longest) sequences, or lightest/shortest?
shortest - lightest
How closely identical in sequence are any 2 copies of the human genome?
99.9% Identical!!!
What are the MAJORITY of differences between humans in the genome?
Single base pair changes or deletions -> SNPs
Are SNPs mono or diallelic?
How many SNPs are there between any 2 chromosomes approximately?
2 to 3 million
So how many SNPs are there per 1000 bp?
1 SNP every 1000 bp
How can SNPs be assessed?
With high-throughput genotyping methods
What are 2 methods for genotyping for an individual SNP?
-Taqman assay with PCR amplification
-Primer extension assay
What is the basis of both Taqman assays and Primer extension assays?
The extended primer consists of fluorescent nucleotides to allow visualization of the SNP if it is there.
What are 3 methods for genotyping for multiple SNPs?
-Mass spec based
-Illumina bead array
What are 3 clinical uses of genotyping for SNPs?
-Clinical diagnosis
-Prenatal diagnosis
-Genetic counseling