MCDB 2150 Lecture 8: Class 8 Genetic Diagnosis

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Genetic Diagnosis
Class Notes
Variation: individuals have differences in DNA sequences
o Differences occur in many different places in the genome
o Non-coding sequences
Short tandem repeats (STRs)
Variable number tandem repeats (VNTRs): similar to STRs
o Alleles of genes
Wild type allele: the most common non-disease allele
Variant allele: everything else, including alleles that cause disease
o Variation that can be used to find out a person’s phenotype:
Single Nucleotide Polymorphisms
Restriction Fragment Length Polymorphisms
Newborn or pre-natal screening can provide information about likelihood of suffering from a
disease
o Isolate DNA from blood or tissue sample
o PCR amplify the gene of interest
o Determine whether there is a mutation in the gene
Single Nucleotide Difference = Single Nucleotide Polymorphism (SNP)
How are SNPs identified?
o Allele-specific oligonucleotides (ASOs)
Short, single-stranded fragments of DNA that are specifically generated to be
used as “probes” to identify alleles that differ by a single oligonucleotide, i.e.
SNPs
o DNA from an individual is placed in a spot on a filter
o Specific probes are placed on the filter: each probe is complementary to the sequence that
includes the SNP
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