DNA Recombination/Rearrangement
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19 terms
Terms | Definitions |
|---|---|
 Linkage | probability of meiotic recombination(cross over) ocurring between 2 loci |
| Unlinked loci if... | equal proportions of parental and recombinant chromosomes are observed in gametes |
| Haplotype | the collection of alleles found together on a single chromatid |
| Increased markers on chromosome... | ...the more precisely one can define the haplotype |
| Frequency of crossovers (maternal) | maternal crossovers occur 1.7x more frequently in maternal than paternal meioses |
| Unequal recombination | due to presence of duplicated sequences in a chromosome; results in reciprocal deletions and insertions |
| Alu or LINE (L1) | dispersed, repeated DNA sequences throughout the genome; intrahomologous recombination between 2 Alu or LINE repeats can result in deletion of all the DNA between them |
| Non allelic Homologous Recombination (NAHR) | homologous recombination between repeated sequence, whether it occurs via unequal recombination between 2 different chromatids or within a single chromatid |
| Transposons | they can generate copies of themselves that insert into the genome at new positions |
| NHEJ | non homologous end joining |
| NHEJ | ds break in DNA - 2 free ends join together, losing some bp's |
| translocation (in nhej) | if other free ends are present on other chromatids, one chromosome is linked to part of another chromosome |
| Somatic rearrangement | programmed deletions (in B and T cells0 |
| VDJ joinin | somatic rearrangement that uses the NHEJ pathway to connect V/D and D/J gene segments after cleavage of the DNA at the boundary of the gene segments by specific nucleases |
| TRECs | T Cell Receptor Excision Circles' due to somatic rearrangement in T cells |
| absence of TRECs | indicates SCID in newborns |
| CNVs | copy numer variations; changes in copy number of a genomic sequence |
| CNVs, how? | due to insertion or deletion of segments of DNA |
| detection of CNVs | array comparative genome hybridization (aCGH); |
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