Genetics and Health Week 1 Flashcards
Define Gene
Length of DNA contains exons and introns which is then transcribed into a mature mRNA, and then finally translated into a protein
Define Genome
Organism’s complete set of DNA
Sum of all genes
Define Transcriptome
The total amount of mRNA that is expressed from the genes of the organism
Define Proteome
Entire set of proteins that is expressed by an genome, tissue, organism
Define Exome
Part of the genome that contains exons which codes for genes
What is the purpose of the Francis Collins Approach?
Creating longer sequences of the chromosomes
What is the purpose of Craig Venter Approach?
Breaking down the whole genome into pieces
Define Each
1) Metacentric
2) Submetecentric
3) Acrocentric
1) Metacentric: Centromeres are located near the chromosome center
2) Submetacentric: Non-centrally located so that one arm is shorter
3) Acrocentric: are located near the end of a chromosome
Explain the function of each type of Disease
1) Inherited Disease
2) Bacterial Infection
3) Viral Infection
1) Alter or eliminate normal gene function
2) Alter tissue function by producing proteins that interfere with normal cellular functions
3) Force the host genome to make viral proteins
When do chromosomes start to appear?
M-phase
What is the purpose of the cffDNA?
to determine the gender of the baby
Define Telomere
region of short repetitive DNA sequences at the end of a chromosome
Explain Euchromatin
a) Physical State
b) Type of Genes
c) Replicates During
a) More Relaxed
b) Active
c) Early S-phase
Explain Heterochromatin
a) Physical State
b) Type of Genes
c) Replicates During
a) More Condensed
b) Slient
c) Late S-phase
Chromosome Terminology
X (p or q)11.2
1) Chromosome
2) Arm
3) Region
4) Band
5) Sub-Band
How to trace:
A) Maternal ancestry
B) Parental ancestry
A) Mitochondrial DNA
B) Y-chromosome
Describe the Gene smear test
1) Taking blood sample and isolating red blood cells to analyse leukocytes.
2) Treat leukocytes with colchicine to inhibit mitosis (prevents them from progressing to anaphase).
3) PVut them on a slide to be viewed microscopically
Describe the Chorionic Villus Sampling
Cells of the chorion are sampled at 11-14 weeks of gestation.
Describe the Amniocentesis
Foetal cells suspended in the amniotic fluid around the foetus are sampled at 15-18 weeks of gestation.
Describe Non-Invasive Prenatal testing
Analysing maternal blood sample which contains cell-free foetal DNA.
Define Pluripotent Cell
A pluripotent cell is a stem cell that can differentiate into any type of cell (bone cell, muscle cell etc). Pluripotent cells contain a higher proportion of euchromatin as it is less committed to a specific function.
Define Tay-Sachs Disease
Tay-Sachs disease is an autosomal recessive disease that is caused by inherited two copies of a mutated HEXA gene found on chromosome 15.
The mutated HEXA gene does not produce hexosaminidase A, which is responsible for breaking down a fatty material in the brain and nervous system called GM2 ganglioside
The build up of GM2 ganglioside results in neurological problems. Symptoms include loss of motor skills, movement problems and muscle weakness
Describe the organisation of DNA in chromosomes using the terms: nucleotides, double helix, histones, nucleosomes and chromatin
Nucleotide base pairs bind to each other and create a double helix which wraps around a core of 8 proteins called a histones, forming a nucleosome. Nucleosomes condense to form chromatin
