BMS05 Flashcards
What is an inversion?
When the chromosome flips before reattaching, this can include the centromere
Describe the 3 components of a chromosome
P arm (short, Q arm (long) and a centromere
Where is the telomere found?
At the end of the Q arm (long)
What does 7q22.3 mean?
Chromosome 7, arm Q, gene 22.3
What’s the 2 differences between eu- and hetero-chromatin?
Heterochromatin doesn’t have protein coding genes as its coiled so tightly
What causes Klinefelter and Turneres syndrome?
Too many X chromosomes
What causes cri-du chat syndrome?
The short arm of chromosome 5 being deleted
What causes down syndrome, patau syndrome and edwards syndrome?
Having 3 of a chromosome instead of 2
Define tele-, acro-, meta- and submeta- centric
Normal chromosome layout, centromere being closer to one end, centromere is dead centre and the centromere is dead centre but the arms make an L shape
What is polyploidy and aneuploidy?
Polyploidy is having multiple sets of chromosomes and this is when chromosomes don’t separate properly in anaphase so cells end up with strange amounts
What is translocation?
A segment of the chromosome moves position on the chromosome or swaps with parts of other chromosomes
What is a point mutation?
Single base change
What is polymorphism?
Variation due to natural selection
Allele
An alternative form of a gene
What do incest relationships cause?
More homozygous recessive genotypes
