IMED2004 Study Guide - Final Guide: Copy-Number Variation, Indel, Restriction Fragment Length Polymorphism
Document Summary
Deletions and duplications of tiny parts of a chromosome. Mutations that either create extra copies of a gene on one chromosome or result in the deletion of genes. Genes that are deleted as a result of mutations; These deletions may play a role in the development of. A subset of snps lead to gain/loss of re site. G nt in one chr and missing g in the other. Either g insertion on strand 1 or deletion in strand 2. Insertions and substitution nt such as snp can lead to gain/loss of restriction enz sites where re recognize then cleave that dna. If change that site, either lose/gain re site. Re site was used to map the genome last time. Imprecise cut-off between indels and copy number variants (cnv) Heterozygous deletion of a single nucleotide at a defined position on chromosome has one copy of that nucleotide instead of two. Modern convention is that indel describes deletions/insertions up to 50 nucleotides.
