Variation chromosome structure & number Flashcards
Allelic Variation
Variation in specific genes
A reference point is used to determine what is __________ & ____________
Normal & abnormal (Ex. A normal person has 23 sets of pair of chromosomes so 46 chromosomes in total)
To classify & identify chromosomes scientist look at what?
- Centromere
- Size
- Banding patterns that are revealed when chromsomes are stained
Metacentric
The centromere is near the middle
Submetacentric
The centromere is slightly off the center
Aerocentric
The centromere is significantly off the center but not at the end
Telocentric
The centromere is at one end
Karyotype
Photo of organized chromosomes
Since chromosomes aren’t directly connected at the center one will be a _______ arm noticed by the letter p & a _______ noticed by the letter q
Long arm, short arm
In a karyotype the longest chromsomes have the ________ numbers & the smallest chromosomes have the ________ numbers
Lowest (like 1,2,3), largest (like 20, 21)
What are the types of mutations to affect/ rearrange genetic material in eukaryotic chromosomes?
- Deletions
- Duplications
- Inversions
- Translocation
Deletion
A segment of chromosomal material is missing (deleted) (deficiency- describes the missing (deleted) region)
Duplication
Section of a chromosome is repeated (duplicated) more than once in the chromsome
Inversion
Involves a change in the direction of the genetic material along a single chromosome
Translocation
Occurs when one segement of a chromosome becomes attatched to a different chromosome or to a different part of the same chromosome
Simple Translocation
When a single piece of chromsome is attatched to another chromosome
Reciprocal Translocation
Two different chromsomes exchange peices which alters both of them
____________ &___________ changes the total amount of genetic material in a chromosome
Deletion & duplication
_____________ & __________ are chromosomal rearrangments
Inversion & translocation
Loss of genetic material due to a deletion tends to be ____________ to an organism
Detrimental
____________ happens when a chromsome breaks in one or more places & the resulting fragments are lost
Deletion
Interstital deletion
When two fragments reconnect
____________ has a detrimental phenotype effect where larger deletions tend to be more harmful since more genetic materiall is missing (ex. Cri-du- chat sydrome)
Deletion