Week 3- Chromosomes, Genes and DNA Flashcards
Sickle cell anaemia
- Chromosome 11
- Single base substitution: A –> T at 7th position
Cystic fibrosis
- Chromosome 7
- Transmembrane chloride channel
- 3 base pairs CTT deletion between 5th and 6th position
- Single amino acid deletion: phenylalanine, misfolded protein
Polynucleotides
Linear polymers of nucleotides
Nucleoside
Base plus sugar
Types of nitrogenous bases:
- Purine - 2 ring structure (Adenine, Guanine)
2. Pyridimine - single ring (Cytosine, Thymine, Uracil in RNA)
Two types of chromatin structure
- Euchromatin: light grey, beads on a string, genes expressed
- Heterochromatin: solenoid, 30 nm fibre, genes not expressed, dark-grey
Chromatin
DNA/protein complex that forms a chromosome
Length of spermatogenesis
Approximately 48 days
Length of oogenesis
Approximately 12 to 50 years
Consequences of faulty meiosis
- 1/3 of all identified miscarriages
- Infertility
- Mental retardation
Uses of mitosis
- Growth
- Cell replacement
- Wound healing
- Embryological development
- Asexual reproduction
RNA primer
Short-double stranded region of RNA base-paired to DNA template; free hydroxyl group on 3’ end of template which allows for addition of nucleotides
Telomeres
Comprises of non-coding DNA plus proteins located at the ends of linear chromosomes;
- maintain structural integrity of chromosomes, preventing attack by nucleases
- several thousand tandem repeats