Chromosomal Mutants Flashcards
Karyotype
Metacentric – middle
Submetacentric – close to middle
Acrocentric – close to end
Telocentric – end
Chromosomal Deletions RF
no recombination in deletion
- crossovers closer together
- higher RF
Chromosome Deletions Recessive Alleles
genes lost in deletion = null loss of function alleles
Chromosome Deletion Polytene Chromosomes
bubble
- bottom strand = deletion
Chromosome Deletion PCR Analysis
primers closer together b/c deletion
- see product from deletion chromosome
Chromosome Duplications - Types
Tandem = close + direct Displaced = far + direct Reverse = close + inverted
Chromosome Duplication Polytene Chromosomes
bubble
- top strand = duplicated
Paracentric Inversion
- NOT include centromere
- centromeres pulled apart on same strand
DRAW OUT
Pericentric Inversion
- include centromere
- centromeres pulled apart on opposite strands
DRAW OUT
Effect of Inversions/Translocations
- next to new DNA
- split DNA into 2 loss of functions
- recombination in inversion = non-viable gametes
Non-Reciprocal Translocation
region of one chromosome insert into another
Reciprocal Translocation
regions of chromosomes switched btwn pair of homologous chromosomes
Reciprocal Translocations - Adjacent 1
- horizontal division
- inviable gametes = missing info
Reciprocal Translocations - Adjacent 2
- vertical division
- inviable gametes = missing info
Reciprocal Translocations - Alternate segregation
- translocated chromosomes one way
- normal chromosomes other way
- viable gametes = all info
Aneuploidy Types
Normal = 2n Nullsomy = 2n-2 (loss of one homologous chromosome) Monosomy = 2n-1 (loss of single chromosome) Trisomy = 2n+1 (extra chromosome) Tetrasomy = 2n+2 (extra pair chromosomes)
Mitotic Nondisjunction
both sister chromatids pulled to one pole
Nondisjunction of X Chromosome
Male = loss of function allele
- gynandromorphs
Nondisjunction at Meiosis I
gametes –> fertilized
- 2 trisomy (both homologs)
- 2 monosomy
Nondisjunction at Meiosis II
gametes –> fertilized
- 2 normal
- 1 trisomy (one homolog)
- 1 monosomy
Uniparental Disomy
- only 1 parent heterozygous for mutant –> progeny have both mutant alleles
- nondisjunction at meiosis II
- 1 trisomy (one homolog – 2 mutant allele)
- nondisjunction = 2 mutant alleles + normal allele
Polyploidy
Genome duplications
- change in #of sets of chromosomes
- 2n –> 3n –> 4n
Autopolyploidy - Mitotic
- 2n
- replicate
- Colchicine (MT inhibitor) = no division
- 4n
Autopolyploidy - Meiotic
2n –> duplicate
- no segregate at meiosis I (all to one pole)
- meiosis II – 2 gametes (2n)
- fertilization = triploidy (3n) —- unbalanced/inviable