IMMS Flashcards
How many chromosomes are found in humans?
46 chromosomes, 22 pairs of autosomes and 1 pair of sex chromosomes
Define Karyotype
number and appearance of chromosomes in a cell. Spreads are arranged
in size order, biggest is pair 1 and smallest is pair 22, sex pair is pair 23
Which phase in the cell cycle is the longest?
Interphase
Which events occur in Interphase
G1 - rapid growth, New organelles produced, protein synthesis
S - DNA replication, Histones replicate, Centrosomes replicate
G2 - Energy stores accumulate and mitochondria duplicate
What occurs in Prophase?
Chromatin condenses into chromosomes
Centrosomes nucleate microtubules and move to opposite poles
What occurs in Prometaphase?
Nuclear membrane breaks down
Microtubules invade nuclear space
Chromatids attach to microtubules
What occurs in Metaphase
Chromosomes line up on the equator of the cell
What happens in Anaphase
Sister chromatids separate and are pushed to opposite poles of the cells, centromere
first, as spindle fibres contract
What happens in telophase?
- Nuclear membrane reforms
- Chromosomes unfold into chromatin
What happens in cytokinesis?
Cytokinesis is where the cell divides into two genetically identical daughter cells
Which genetic disease arises from trisomy 21?
Down Syndrome
What is meiosis used for and what does it produce?
Used to produce gametes
4 haploid cells are produced (genetically different)
Name two ways in which genetic diversity arises in meiosis and when do they occur?
Independent assortment - a random assortment of the chromosomes, new combinations - METAPHASE 1
Crossing over - Between non-sister chromatids, alleles are exchanged - PROPHASE 1
What occurs in meiosis 2?
Sister chromatids separate and haploid cells are produced
Briefly describe gametogenesis in males
- Primordial germ cell
- lots of mitoses
- Spermatogonia produced
- Begins at puberty
- Cytoplasm divides equally
- process takes 60-65 days
Briefly describe gametogenesis in females?
- Primordial germ cell
- 30 mitotic divisions
- oogonia produced
- oogonia enter prophase 1 (8th month if intrauterine life)
- process suspended
- enter ovulation, the cytoplasm divides unequally
- 1 egg , 3 polar bodies
- Meiosis 1 completed at ovulation
- Meiosis 2 completed at fertilisation
Describe Non-Disjunction
Failure of chromosome pairs to separate in Meiosis 1 or sister
chromatids to separate properly in meiosis 2.
- can result in monosomy, trisomy
Describe Gonadal Mosaicism
• Occurs when precursor germline cells to ova or spermatozoa are a mixture of two or
more genetically different cell lines (due to errors in mitosis)
• One cell line is normal, the other is mutated
• Incidence increases with advancing paternal age
- Most common in males
Define Genotype
the genetic constitution of an individual
Define Phenotype
The appearance of individual results from the interaction of the
environment and the genotype
Define Allele
One of several alternative forms of a gene at a specific locus;
What is polymorphism
frequent hereditary variations at a locus. Doesn’t cause problems
(thats mutations). Polymorphisms can be you more/less efficient or make you more/
less susceptible to disease.
define consanguinity
the reproductive union between two relatives
Define Homozygous and heterozygous
- Homozygous: both alleles are the same at a locus
* Heterozygous: alleles at a locus are different
Define penetrance
Proportion of people with a gene/genotype who show the expected
phenotype
Define variable expression
Variation in clinical features (type and severity) of a genetic
disorder between individuals with the same gene alteration
Define sex limitation
Expression of a particular characteristic limited to one of the sexes
What is a multifactorial condition?
Diseases due to a combination of genetic and
environmental factors.
Summarise autosomal dominant inheritance.
- Manifests in the heterozygous state.
- Male to Male transmission is seen.
- Both males and females are affected equally.
- The disease is present in several generations.
- There is a 50% chance of offspring having the disease.
Summarise autosomal recessive inheritance.
- Manifests in the homozygous state.
- The disease is often not seen in every generation.
- 25% chance of offspring having the disease.
- 50% chance of offspring being carriers.
- Healthy siblings have a 2/3 chance of being carriers.
Give an example of an autosomal dominant condition.
Huntington’s disease
Give an example of an autosomal recessive condition
Cystic fibrosis
Give two examples of X-linked conditions
- Haemophilia
- Duchenne muscular dystrophy
Summarise X-linked inheritance
- No Male-Male transmission
- all daughters from an affected male are carriers
- sons unaffected
- Males can never be carriers
Define lyonisation.
One of the female X chromosomes becomes inactivated early in embryogenesis.
What is imprinting?
some genes have only one of the two alleles active, either maternal or paternal
Which symbol on a pedigree chart shows a termination of pregnancy
triangle with a line through it
Which symbol on a pedigree chart shows a miscarriage?
triangle
which symbol on a pedigree chart shows a stillborn - sex unknown
Diamond
What process occurs on the outer membrane of mitochondrion?
Lipid synthesis
Where in a cell does the Krebs cycle take place?
Matrix
Name 2 places DNA can be found.
- Nucleus of a cell.
2. Mitochondria (purely maternal DNA).
What process occurs on the inner membrane of mitochondrion?
Electron transport chain - oxidative phosphorylation
What is the role of the RER
Protein synthesis
Describe the role of the SER?
Lipid synthesis
What is the function of the golgi apparatus?
Processes and modifies ER products.
What is the cis face of the golgi apparatus?
The cis face is nearest the nucleus and receives ER vesicles.
What does the medial Golgi do?
It modifies products by adding sugars forming oligosaccharides
What does the trans face of the golgi do?
It sorts molecules into vesicles.
What are the functions of vesicles?
Transports and stores materials. These are membrane-bound organelles.
What are lysosomes?
- Derived from golgi
- H+/ATPase on surface
- enables acid hydrolases to work
- breakdown debris and bacteria and cell organelles
What is the role of peroxisomes?
Oxidise long-chain fatty acids - involved in fatty acid beta oxidation
How do HbS sub-units cause sickling?
They bind to the cytoskeleton which causes sickling.
What the smallest type of filamentous protein found in cells?
Microfilaments - actin forms a bracing mesh
What the largest type of filamentous protein found in cells?
Microtubules - tubulin - arise from centrosomes - in all cells apart from erythrocytes
Give an example of an intermediate filament
Desmin
What is the role of intermediate filaments?
Spread the tensile forces through the tissues - reduces cell damage
What is lipofuscin?
Orange-brown pigment - peroxidation of lipids - found in older people - wear and tear pigment
Describe the primary structure of proteins?
The sequence of the amino acids - held together by covalent bonds
Describe the secondary structure of proteins
Formation of beta-pleated sheets and alpha helixes due to H-bonds
Describe the tertiary structure of proteins
- Overall 3D shape of a protein
- ionic bonds, disulphide bridges, van der Waals and hydrophobic forces
Describe the quaternary structure of a protein
Two or more polypeptide chains joined together - e.g haemoglobin
What is an isoenzyme?
enzymes that have a different structure and sequence but catalyse the
same reaction
What is a Coenzyme?
they cannot in themself catalyse a reaction but can help enzymes to
do so. They can bind with the enzyme protein molecule to form the active enzyme
Which part of an immunoglobulin does the antigen bind to?
variable domain
What is the function of topoisomerase?
it unwinds the DNA double helix by relieving the supercoils.
In what direction does DNA polymerase read?
3’ to 5’ (but replication occurs in the 5’ to 3’ direction).
What is a promoter sequence?
The promoter region controls when and where the RNA polymerase will attach to DNA so transcription can commence.
what is the role of single-stranded binding protein (SSB) in DNA replication?
keeps two strands of
DNA apart whilst synthesis of new DNA occurs
What is the role of DNA ligase
joins the short DNA pieces (Okazaki fragments) together into one
continuous strand.
What is the role of a primer?
Short strand of DNA that is the start point for DNA synthesis
Briefly describe translation.
A tRNA with a complementary anticodon to the codon on mRNA binds. Peptide bonds from between amino acids = polypeptide chain.
What is splicing?
Removal of introns
Which part of the gene contains coding sequences
Exons
List 3 features of the genetic code.
- Non-overlapping
- Universal
- Degenerate
What is a mis-sense mutation?
A single nucleotide change results in a codon coding for a different amino acid. This can result in a non-functional protein or can have no effect (degenerative nature of the genetic code).
What is a non-sense mutation?
A single nucleotide change that produces a premature stop codon. This results in an incomplete/non-functional protein.