Principles of Disease summary Flashcards
In what genes can mutations occur that cause breast cancer?
BRCA1/BRCA2
What does a defective CFTR gene cause?
Cystic Fibrosis
What gender are affected by Y-linked diseases?
Males
Name 2 pathways in the cell cycle in which genes become mutated and can lead to cancer.
Cyclin pRb pathway
p53 pathway
What do mutations in the p53 gene prevent?
Cell cycle from stopping
What does severe damage cause the p53 pathway to do?
Trigger apoptosis
Trisomy 21 is more commonly known as what?
Down’s Syndrome
DNA is packaged by wrapping itself around what?
Histone proteins
Name a method of detection of Down’s, Edward’s and Patau syndrome
Amniocentesis
Name a method of detection for Turner and Klinefelter Syndrome
Karyotyping (chromosome analysis)
Name the most simple method of detection of Cystic Fibrosis
Sweat test, to measure salt content of sweat
Translocation of what chromosomes is a risk for Down’s Syndrome?
14 and 21
RNA is produced from DNA via what process?
Transcription
How is tRNA produced?
Translation of mRNA
What kind of cells are produced in Mitosis? (i.e. haploid/diploid)
Diploid
In Meiosis, diploid cells divide to produce what?
Haploid cells
What kind of mutations won’t be passed on to future generations?
Somatic
What kind of mutations cause no significant phenotypic change?
Silent
What is Triploidy?
Rare chromosomal abnormality where cells have 3 sets of chromosomes rather than 2. Lethal condition.
What does a nucleotide consist of?
Base + (deoxy)ribose sugar + phosphate
What are the 3 major phases of Interphase?
G1, S and G2
In what stage of Mitosis do chromosomes align at the equator?
Metaphase
In what stage of Mitosis do sister chromatids separate and move to opposite ends of the cell?
Anaphase
What is Cytokinesis?
The last stage of Mitosis in which the cytoplasm separates producing 2 new daughter cells.
Name the organelle which is the site of protein synthesis.
Ribosomes
What is an Adenoma?
Benign, glandular, epithelial tumour
Name a squamous, epithelial, malignant tumour
Squamous carcinoma
Name the 5 most common sites of metastasis
Brain Liver Lungs Bone Adrenal Glands
Give a disadvantage of MRI?
Claustrophobic and noisy for patient
Cannot image patients with pacemakers or metal prosthetics
Name a contrast agent used in MRI?
Gadolinium DPTA
What is the biomarker used for colon cancer?
CEA
What is Her2 a biomarker for?
Breast cancer
What is alpha-fetoprotein a biomarker for?
Teratoma of testes
Hepatocellular Carcinoma
Are staphylococci clusters or chains?
Clusters
What shape are bacilli?
Rod
Name a coagulase negative gram positive cocci
Staphylococcus Epidermidis/Haemolyticus
What species of staphylococcus is coagulase positive?
Staphylococcus Aureus
Are Streptococci species gram positive or negative?
Gram positive
What Streptococcus species are alpha-haemolytic?
Streptococcus Pneumoniae
Viridans Sterptococci
Name a gram positive cocci that is non-haemolytic
Enterococci Faecalis
What species are gram positive, aerobic and spore forming?
Bacillus species
Are Clostridium species spore forming or non-spore forming?
Spore forming
What does Clostridium Difficile cause?
Diarrhoea
What species causes gas gangrene?
Clostridium Perfringens
Clostridium Tetani can cause what?
Tetanus
Neisseria Gonorrhoeae causes what?
Gonorrhoea
How is Neisseria Meningitidus treated?
With IV penicillin
Bacteriodes Fragilis are resistant to what antibiotic?
Penicillin
Are Pseudomonas species gram negative or gram positive?
Gram negative
What species are a cocci-bacilli mix?
Pseudomonas