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Flashcards

Chromosome Mutations

gina_evans0312 Year 2 English 5.0Average rating 5.0 out of 5 (1 rating) 41 cards

Chromosome Mutations

Cards in this deck (41)

  1. 1—Telomeric ChromosomeTelomeric Chromosome
  2. 2—Submetacentric ChromosomeSubmetacentric Chromosome
  3. 3—Acrocentric ChromosomesAcrocentric Chromosomes
  4. 4—Metacentric ChromosomeMetacentric Chromosome
  5. 5KaryotypeSet of chromosomes carried by an individual
  6. 6Karypotyping DyesDifferent dyes have different base affinities- leading to distinctive bands for chromosome identification
  7. 7Fluorescent Probes In KaryotypingSpecific for each chromosome
  8. 8MBandingUsed to identify different areas, using more specific dye affinities
  9. 9—Deletion MutationDeletion Mutation
  10. 10WolfHurchorn SyndromLoss of a Small region on the short arm of chromosome 4
  11. 11Effects of Wolf-Hirschorn SyndromVariable expressivity & phenotypes
  12. 12HaploinsufficiencyWhen an organsim only has a single functional copy of the gene
  13. 13Effects of HaploinsufficiencyCan lead to expression of mutant (despite wild type originally being present) or insufficient production of wild type protein
  14. 14Effects of Deletion of MeiosisUnequal distances between alleles causes looping
  15. 15—Looping caused by the deletion of genesLooping caused by the deletion of genes
  16. 16PseudodominanceWhere the inheritance of a recessive trait mimics that of a dominant trait- can be caused by deletion mutations
  17. 17Deletion of Wild typeCan lead to expression of recessive mutant
  18. 18—Tandem DuplicationTandem Duplication
  19. 19—Displaced DuplicationDisplaced Duplication
  20. 20—Reversed DuplicationReversed Duplication
  21. 21—Displaced Reversed DuplicationDisplaced Reversed Duplication
  22. 22—Duplication LoopingDuplication Looping
  23. 23Effects of DuplicationCan lead to excision of duplicated/normal sequence, or loss of all genes in between duplications
  24. 24—Duplication ExcisionDuplication Excision
  25. 25—Non-Allelic Chromosome RecombinationNon-Allelic Chromosome Recombination
  26. 26Willam Beuren SyndromrCaused by N.A.C.R- causes duplication of 20 genes on 7q, deletion of them in the other
  27. 27Chromosome Location = pShort arm of chromosome
  28. 28Chromosome Location = qLong arm of chromosome
  29. 29—Paracentric inversionParacentric inversion
  30. 30—Pericentric Inversion (Involves the centromere)Pericentric Inversion (Involves the centromere)
  31. 31Effects of Inversion PointsGene disruption/fusion at the loci
  32. 32Position effectsGenes moved by an inversion can have their levels of expression altered- i.e. placed near a strong promoter
  33. 33Loops and CruciformsCan be formed by inversion- leading to chromatid fusion & DNA excisions
  34. 34—Reciprocal TranslocationReciprocal Translocation
  35. 35—Non-Reciprocal TranslocationNon-Reciprocal Translocation
  36. 36—Robertsonial TranslocationRobertsonial Translocation
  37. 37Requirements for R. TranslocationAcrocentric Chromosomes
  38. 38Effects of Chromosome translocationsLeads to formation of crosslike structures
  39. 39—Alternate Segregation- only form that doesn't lose genesAlternate Segregation- only form that doesn't lose genes
  40. 40—Adjacent 1/2 Segregation- causes loss of genesAdjacent 1/2 Segregation- causes loss of genes
  41. 41Gene loss leads toLoss of heterozygosity i.e. revealing recessive mutations

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Description
Year 2 Flashcards on Chromosome Mutations, created by gina_evans0312 on 16/12/2013.
Created by
gina_evans0312
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Average rating 5.0 out of 5 (1 rating)

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