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16 Cards in this Set
- Front
- Back
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In order to track disease alleles in a family, other known DNA sequences that are located close to the disease allele can be used
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Genetic Markers
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The chromosome location of a specific gene or known DNA sequence.
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Locus
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having multiple alleles of a gene within a population, usually expressing different phenotypes
A locus in which 2 or more alleles have gene frequences of 1% or higher |
Polymorphism
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99% of the population has the same allele
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Monomorphic
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Polymorphisms in a DNA sequence in which both the sequence and the position (which chrom. and where) is known. Any difference in DNA that can be tracked
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marker
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Variations in DNA sequnces caused by the presence or absence of restrictionsites. Results in differing DNA fragment sizes.
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Resetriction Fragment Length Polymorphism RFLP
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A labeled substance (like a DNA segment or an antibody) that is used to identify a gene, mRNA, or gene product (protein)
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Probe
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Portion of DNA that contains highly repetitive sequences
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Satellite DNA
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Type of satellite DNA containing hundreds of bp long
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Microsatellite
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Type of satellite DNA containing thousands of bp long
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Minisatellite
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What can happen if RFLP is not part of the gene
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You can find different combinations of marker alleles and gene alleles because crossover can occur.
So be aware that an allele in one family may not be the same in other families. |
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Determining disease status via RFLP analysis
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Person can be homozygous for gene but heterozygous for the disease.
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Variable Number of Tandem Repeat Polymorphisms VNTRs
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Used to detect variation between alleles based on the length of tandem repeats in DNA minisatellites.
Vary in size and are flanked by restriction sites (distinguishing factor) |
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Short Tandem Repeats (STRs or STRPs)
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They are smaller than minisatellites
Are NOT flanked by restriction sites. Best isolated by PCR Also used to distinguish individuals (ie: DNA fingerprinting) |
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Analysis with ASO Probes
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These are probes for diseases where we actually know the sequence.
Sensitive enough to detect a single nucleotide change, which would not cause hybridization. |
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How is analysis done with the ASO probe?
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"Dot-blot" where DNA is spotted onto a filter, then hybridized with labeled ASO. Visible dot indicates the presence of the DNA sequence for which the ASO tests.
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