Variation in Chromosome Structure and # Flashcards
humans have _____ pairs of chromosomes.
Chimpanzees ____
Bonobos ______
23
24
24
Classification and identification of chromosomes: (3)
centromere postition
size
banding pattern
variation in chromosome structure–
deletion
duplication
inversion
translocation
missing region.
normal chromosome has broken in one or two places; or recombined at incorrect locations
deletion
region repeated.
crossover at misaligned sites on homologous chromosomes (recombination)
duplication
change in direction: 123—>321
inversion
segment becomes attached to a different part of the chromosome or to a different chromosome.
translocation
translocation simple: _________ _________ from a chromosome to another.
single piece
translocation–
_____________: exchange of pieces between different chromosomes.
reciprocal
_____________ tend to be detrimental .
deletions
Lejeune syndrome– which chromosome?
andelman syndrome–
prader-willi sysndrome–
5
15
15
_______________ tend to be less likely to have harmful effect than deletions.
ex: Charcot-Marie-Tooth disease (type 1A) what chromosome?
duplacations
15
Duplications can lead to ______ ______ _________ ( a segment of DNA—> 1000 bp with copy number differences among individuals of a species.
ex: humans–> schizophrenia, autism, susceptibility to _________ ___________.
copy number variation
infectious disease
____________ regularly no phenotypic consequences.
inversions
inversions:
- if its boundaries affected a gene, it probably leads to _____________ _________.
- ____________ _________- reposition of the gene in the chromosome (affects gene expression).
phenotypic effect
position effect
inversions are rare, surprisingly in humans, ___% of population carries detectable inversions.
2%
__________ __________: normal copy in one chromosome, inverted copy in the other (phenotypically normal)
inversion heterozygote.
____________ ___________: amount of genetic material in not altered, generally no phenotypic consequences.
balanced translocations
balanced translocations may result in ________ _________.
position effects
individuals with balanced translocations may have offspring with ______________ translocation: phenotypical abnormalities, some lethal.
unbalanced
______________ ___________: breaks near centromeres of two homologous acrocentric chromosomes
robertosonian translocation
segregation patterns in reciprocal translocations: a,b,c
a. diagonal chromosomes sort together
b. adjacent chromosomes of different centromeres sort together
c. chromosomes with same centromeres sort together (rare)
total of chromosomes in an exact multiple of chromosome set
euploid
three or more sets of chromosomes
polyploid