Chromosomes and cell division Flashcards
Telomeres
5’ - TTAGGG - 3’ repeats at the end of chromosomes
Mitosis
two new daughter cells created
diploid cells form diploid cells
Meiosis
produces haploid cells from diploid cells
Fertilisation
produces diploid cells from haploid cells
how many base pairs?
3 billion
how many human genes
20-30000
how much DNA is protein coding DNA?
about 2%
Chromatin
DNA packaged with histone proteins
Histones have a ………. charge
positive
Histones in chromatin are packed into units called
nucleosomes
FISH
Fluorescent in situ hybridisation
Cell division in germ cells
meiosis
Oogenesis
egg formation
Spermatogenesis
sperm formation
Sperm go through more………….. than eggs do
cell divisions
so more chance of mutation
Sickle cell disorders
abnormal HB gene
Shaped in family history BOYS
square
shapes in family history GIRLS
circle
Cystic Fibrosis
1 in 25 in the UK are carriers
single gene (>3000 mutations)
Autosomal Dominant inheritance
each child would have 50% chance of inheriting the mutation
X-linked / sex linked inheritance
only males are affected classically
Multiple genes in the same molecular pathway can cause the same…
Mendelian Disease
Trisomy 13
Patau Syndrome
Trisomy 18
Edwards syndrome
Turner Syndrome
45 - X
Klinefelter syndrome
47 XXY
Transitions
Purine to Purine
Transversions
Purine to pyrimidine
Chromatin
mixture of DNA, RNA and proteins
nucleosomes and folding of chromatin are…
barriers to enzymes
Chromatin is made more available by….
histones being genetically modified
histone being displace by chromatin remodelling complexes
Chromosomes are compact and VISIBLE during….
metaphase
Exons
Coding regions
Introns
Non-coding regions
Major role of RNA
to participate in protein synthesis
DNA –> mRNA/tRNA/rRNA –> protein
tRNA
major role to TRANSLATE mRNA sequence into an AA sequence
rRNA
component of ribosomes
transported into the cytoplasm where they combine with proteins to form a ribosome