G214 SU2 Mutations

• What is aneuploid?

  2n +/- a chromosome(s)
• What is euploid?

  complete haploid sets of chromosomes
• What is the formula for monosomy

  2n - 1
• what is the formula for trisomy

  2n + 1
• what is the formula for tetrasomy

  2n + 2
• What is a syndrome with regards to monosomy

  Turner syndrome
• What is haploinsufficiency

  single copy insufficient to provide adequate function for sustaining organism
• What allele is unmasked in momosomy?

  Recessive lethal
• What are common syndromes for trisomy

  Down, Patau and Edwards
• What is the name of the critical area on chr 21 in down syndrome

  Down Syndrome Critical region - dosage sensitive genes
• Does down syndrome increase or decrease with advanced maternal age?

  Increase
• What chr does Patau syndrome occur

  Chr 13
• What chr does Edwards syndrome occur

  Chr 18
• In poliploidy what happens when chr number is not maintained during sexual reproduction

  Sterile offspring
• What is autopolyploidy?

  Multiples of the same genome
• What is allopolyploidy?

  Multiples of different genomes, interspecific mating
• Autopoliploidy results in larger cells which results in

  Increased animal size
• Offspring of allopoliploidy are

  Sterile and a hybrid between 2 species
• What happens to chromosomes in allopoliploidy offspring

  Double in F1 hybrid
• what is amphidiploid?

  Fertile allotetraploid (4n - genomes from 2 different species)
• What is endopoliploidy?

  Replication and separation of chromosomes occur but no nuclear division
• What is deletion?

  Lost portion of a chromosome
• What is a terminal deletion?

  deletion at end of chr
• What is an intercalary deletion?

  deletion from interior of a chr
• What is an acentric fragment?

  A piece of chr with no centromere - lost during meiosis/mitosis
• What does a deletion formulate

  deficiency loop
• What causes cri-du-chat syndrome?

  loss of half of short arm of chr 5
• Is cri-du-chat syndrome genetic?

  No, happens spontaneously
• What is duplication?

  Genetic material present more than once in genome
• What causes duplication?

  Arise through unequal crossing over during meiosis - resulting in both a duplication and deletion
• What can duplication result in

  1. Gene redundancy
  2. phenotypic variation
  3. genetic variation
• What is inversion?

  Rearranges the linear sequence of genes on a chr resulting in no loss of genetic material
• What is paracentric inversion?

  Inverted segment that does not include a centromere
• What is pericentric inversion?

  Inverted segment that includes a centromere
• What is translocation?

  The movement of genetic material in the genome where no genetic material is lost or gained
• What is Robertsonian translocation

  Involves breaks at extreme ends of short arms of 2 non-homologous acrocentric chromosomes
• What is a syndrome that is caused by a robertsonian translocation?

  Familial down syndrome
• What is a fragile site?

  region on chr that does not stain (gap on chr)
• What is a common fragile site?

  Common site for cancer
• What is a rare fragile site?

  Association with genetic disorders