Genetic Variation and Disease (2) Flashcards
(14 cards)
How is a chromosome recognised? (3)
- Banding pattern with specific stains
- Length
- Position of centromere
A ______ is a region of repetitive nucleotide sequences at each end of a chromosome, which protects the end of the chromosome from deterioration or from fusion with neighboring chromosomes.
telomere
When chromosome rearrangement has occurred and all the chromosomal material is still present it is said to be ______
Balanced
______ chromosome rearrangement is when chromosomes have extra/missing material.
Unbalanced
A whole missing or whole extra chromosome is called
Aneuploidy
When the chromosomes are rearranged it is called
Translocation
Unbalanced chromosome rearrangement results in
- miscarriage
- dysmorphic delayed child
What does a microarray CGH show
Any missing or duplicated pieces of chromosome
_______ is a condition in which cells within the same person have a different genetic makeup.
Mosaicism
Mosaicism could be due to a _________ or ________
chromosome abnormality
point mutation
_______ mosaicism occurs when thesomatic cellsof the body are of more than one genotype.
Somatic
A somatic cell is any biological cell forming the body of an organism; that is any cell other that a ______, ______, _______ or _______.
Gamete
Gametocyte
Germ Cell
Undifferentiated Stem Cell
Array Genomic Hybridisation (aCGH) is now the first line for chromosome imbalance – but doesn’t detect ________ rearrangements
balanced
Somatic mosaicism for a chromosomal abnormality is one genetic change that contributes to ______
Cancer (as chromosome changes could activate an oncogene/delete a tumour suppressor)
