Lecture 2- Neurogenetics Flashcards
How many pairs of chromosomes are there in humans
23
Chromosomes are present in
Every cell in the body
Natural variation in our DNA are known as
Single Nucleotide Polymorphisms
SNPs
How much of DNA is shared with others
99.9%
Mitosis produces
Somatic cells
Identical
Meiosis produces
Gametes
Half the number of chromosomes
What is homologous recombination
“Crossing over” of chromosomes
How many genes on human chromosomes
Approx 23000
Genes encode
Proteins
Genes are turned on by
Transcription factors
Transcription factors are activated during
Development or by intracellular signalling cascades from other parts of the cell
What is transcription
In the nucleus genes DNA sequence is copied into mRNA
What is translation
A ribosome attaches to the mRNA and moves along the mRNA reading each triplet codon and using tRNA to put together the amino acid chain to make a protein
What are alleles
Variants of a gene
What is Huntington’s Chorea
- Degeneration of the brain leading to progressive deterioration of movement, temperament and cognition
- Excessive repeat of CAG bases
- Dominant inheritance
What is autosomal dominant inheritance
Single copy will be dominant and lead to the disease