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Cytogenetics

QuestionAnswer
What does the first number in the chromosome nomenclature represent? The chromosome number
What does P represent in the chromosome nomenclature Short arm
What does Q represent in the chromosome nomenclature? Long arm
What is monosomy? Only having one chromosome from a homologous chromosome pair
What is trisomy? Having three chromosomes from a homologous pair
What is trisomy 21? Down syndrome
What is Edwards syndrome? Trisomy 18
What us turners syndrome? Monosomy of the sex chromosomes - XO
What is (incl. appearance) klinefelters syndrome? Trisomy of the sex chromosome XXY - phenotypically male
What is a duplication structural aberration? Gene from one homologous chromosome joins to the other
What is an inversion structural aberration? A section is broken from a chromosome and put back in, in the reverse direction
What is a deletion structural aberration? A section of the chromosome is deleted
What is a translocation structural aberration? A section of the chromosome is broken and replaced on a non-homologous chromosome
What gene is responsible for sex determination? SRY gene
In male, what gonadal duct degerates? Müllerian duct
What causes the Müllerian duct to degenerate? Testosterone
In females, what gonadal duct degenerates? Wolfian duct
What cells produce testosterone? Leydig cells
What cells produce anti-mullerian hormone (AMH)? Serotoli cells
If males are castrated early, and AMH is not produced. What happens? Develop as a female
What technique can be used to detect translocation? Fluorescent in-situ hybridisation (FISH)
How many hydrogen bonds between A and T? 2
How many hydrogen bonds between G and C? 3
By what method does DNA replicate? Semi-conservative hypothesis
What unwinds the DNA in DNA replication? DNA helicase
What enzyme is responsible for making the new DNA strand? DNA polymerase
Before DNA polymerase can act, primer sequences are needed to be added. What enzyme is responsible for this? RNA Primase
On the lagging strand, primer sequences are needed to be added frequently. What are antlers name for these primer sequences? Okazaki fragments
What do single stranded binding (SSB) proteins do? Prevent the re-winding of DNA
What is the purpose of topoisomerase? Nicks the DNA to release tension
Created by: Jake_Bark
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