regions affecting specific phenotypes. Determines gene order by linkage analysis
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What are the principal DNA polymorphisms?
RFLP, VNTR, STR, SNP
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What does RFLP stand for?
Restriction Fragment Length Polymorphisms. These occur every 500bp
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What does VNTR stand for?
Variable Number of Tandem Repeats, also known as a mini-satellites. Are repetitive DNA sequence on a chromosome region. 5-30bp sequences repeated 10-1000 times.
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What does STR stand for?
Short Tandem Repeats, also known as micro-satellites. 1-4bp sequences repeated 10-20 times. These are shorter with more uniform distribution.
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What do restriction enzymes do?
Reveal useful variations for genetic mapping. They cut double stranded DNA at a specific sequence site.
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How do restriction enzymes generate land marks around the genome?
The presence/absence of the restriction site gives rise to RFLP. The RFLP can be analyzed by running it through an agarose gel, this can determine the genotype with respect to the absence/presence of the restriction site.
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What does SNP stand for?
Single Nucleotide Polymorphisms, Differences between individuals every 500-1000 bases.
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What have molecular markers allowed?
The mapping and cloning of human disease genes. Use pedigrees to associate disease with markers.
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What are the categories for SNPs?
Silent SNPs within genes, SNPs where one SNP allele causes a mutant phenotype showing single gene inheritance, SNPs in polygenes, intergenic SNPs
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