BIOLOGY 2C03 Lecture 2: Personal Genome Testing

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23andme: provide personal genome testing (dtc, direct to consumer sequencing: controversy in america and unavailable as they think its equivalent to pharaceuticals. Alternative forms of a genomic locus that differ in nucleotide sequence. Locus- a region on the length of dna and not necessarily a gene. Polymorphisms are very common: 1/350 bp, single nucleotide: snps, microsaellites or short tandem repeats (strs, minisatellites or variable number of tandem repeats (vntrs) Different in single nucleotide at a dna locus. Occur in coding or non-coding regulatory sequences (intro or exon) Snp occurs in both strands (corresponding pair: in non-gene sequence, we call the what-should-be-a-gene, a marker (see ex. ) May be outside the gene or near the gene (can affect the gene or not) Sense strand- coding, plus or non-template strand (same as mrna) Antisense strand- non-coding, minus or template (template for transcription; complementary to mrna)

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