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18 Cards in this Set

  • Front
  • Back
Ploidy
The number of sets of chromosomes in a cell
Euploidy
Havingan equal number of each chromosome
Aneuploidy
having an unequal number of each chromosome

DISRUPTION IN GENE BALANCE CAUSES GENEDOSAGE AFFECTS THAT PRODUCE INCORRECT RATIOS OF INTERACTING PROTEINS ,IMPAIRING NORMAL PHYSIOLOGY.

Aberrant euploidy
loss or duplication of whole chromosome seto 2n is normal, n =monoploid, 3n,4n=Polyploidy

Monoploidy
Exposes recessive alleles masked in diploid if does develop it will be sterile becausemeiotic chromosomal pairing fails
Autopolyploid
chromosome sets originates from one species Triploids are typically sterile due to problemswith chromosomal pairings during meiosis Unequal amount of chromosomes to pair Tetraploids : produce viable gametesú Also have variation in chromosomal pairingsmeiosis
Allopolyploid
chromosome sets originate from two or moredifferent species
Sex chromosomes:
a peculiar exception to the detrimental effects
Non-disjunction
when disjunction fails. Homologous chromosomesor sister chromatids don’t properly segregate into daughter cells causesdisjunction
Gene Balance
should be ratio 1:1§ Proper protein interactions depend on having thecorrect ration of genes products, disrupts physiology.
Monosomic
Affects very negative any deletirous recessivealleles are revealed- can’t be hidden by a dominant allele
Psuedodominance
Recessive alleles appear to be dominant becausecell has only one copy
Trisomic (2n+1
Additional chromosome often causes death orsevere abnormali
Deletion:
loss of chromosome segment

o Problems may arise from dosage affectsExposure of deleterious recessive mutations

Duplication
doubling of a chromosomal segment

Tandem: extra copy is located adjacent tooriginal copy ,Inspectional: extra copy located elsewhere ingenome

Inversion
· Ordering of segment is reversed relative toremainder of chromosome

o Paracentric: Inversion does not containcentromereo Pericentric:: Inversion includes centromere

Translocation:
· Chromosomal segments moves between differentchromosomes
· Balance VS Unbalance
o Balance: rearrangement do not disrupt genebalanceo Unbalance: alter gene balance, cause dosageeffects