BSC 315 Lecture Notes - Lecture 27: Dna Paternity Testing, Dna Profiling, Statistical Hypothesis Testing

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Genes and spacer dna: the genome consists of protein coding regions, utrs, introns, and spacer dna, for diagnostic, forensic, mapping, etc, all parts of the genome are equally useful, locus: a location on a chromosome. Terms: polymorphic: any locus with more than one normal allele, applied earlier to genes: i gene in humans (ia, ib, i alleles). Types of polymorphisms: snps, i(cid:374)gle (cid:374)u(cid:272)leotide pol(cid:455)(cid:373)orphis(cid:373) (cid:894) np(cid:895) (cid:894)pro(cid:374)ou(cid:374)(cid:272)ed (cid:862)s(cid:374)ip(cid:863)(cid:895): (cid:1005)- nucleotide substitution between genomes. Conclusion: g a mutation is specific to the human lineage: locus 2: one human shares a snp with a chimp. Conclusion: c allele is ancestral, in primate ancestors of both human and chimp. Sequences with variable number of copies between genomes. Similar to ssrs, but longer: arbitrary distinction, ssrs: repeat is 1-10 bp. 2: cnvs: repeats is >10 bp, cnvs can include whole genes. Amylase genes and color-receptor genes: mechanisms of cnv: unequal crossing over between identical sequences.

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