BIOC15H3 Lecture Notes - Lecture 10: Zygosity, The Sequence, Bone Marrow

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If a mutation is too severe, it will not survive. Dna variation between individuals: anonymous dna polymorphism can play a crucial role in serving as a molecular marker , these can be used a molecular marker for positional cloning learnt in lecture 9. Deletion-insertion polymorphisms (dips: short insertions or deletions of a single or a few base pairs, also called indels, lower the base pairs involved, higher the frequency. Copy number variants (cnvs: large blocks of duplication or deletion with population frequency of < 1, can affect large blocks (up to 1 mb) of dna without having any phenotypic consequences, unequal crossing-over leads to cnvs (fig 15. 7) Identifying genetic variants: snps, pcr amplify the allele of interest, sequence the pcr product and identify the snp. Ssrs: pcr amplify the allele of interest, run the pcr products on a gel. Practical applications: preimplanatation embryo diagnosis, dna fingerprinting.

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