Week 3 Flashcards
About 15% of SCID cases are caused by deficiency in an enzme that results in a toxic buildup of metabolites (Purines) which kill off B and T cells - what enzyme is this?
ADA
Adenosine Deaminase
In autosomal recessive Chronic Granulomatous Disease, which enzyme, critical for phagocytosis is missing?
NADPH oxidase
What are the two major Tumour Suppressor genes?
- RB1*
- TP53*
X-Linked Agammaglobulinaemia, a B-Cell disease, will result in a patient who lacks what?
All immunoglobulins
Genes that are considered syntetic are:
Found on the same chromosome
NPV (Negative predictive value) measures the ability to:
Detect the presence of a disease
or
Detect the absence of a disease
Detect the absence of a disease
Specificity of a medical test measures the ability to correctly identify:
True Positives
or
False Negatives
False Negatives
Exogenous antigens are presented by MHC proteins of class I or II?
Class II
Craniosyntosis is caused by mutation in which family of genes?
FGFR genes
<em>(Fibroblast Growth Factor)</em>
What does tetra-amelia mean?
Lack of all four limbs
IRT (Immunoreactive Trypsinogen) is the subject of a diagnostic test for what disease?
Cystic Fibrosis
In SCID, the patient is unable to adequately express MHC type II proteins, why does this leave the patient susceptable to all infections and viruses?
MHC type II proteins tag exogenous antigens
Mutation in what gene gives rise to the X-Linked Recessive disease Wiskott-Aldrich Syndrome?
WAS Gene
Why is the p53 protein (via TP53 gene) of intrest in tumour pathology?
p53 regulates apoptosis and cell cycle arrest
What immunodeficient disease is charachterised by deficient MHC class II expression?
Type II BLS
Bare Lymphocyte Syndrome
The mosaic distribution of overgrowth in Proteus Syndrome is caused by mutation in what gene?
AKT1
What type of mutations result in destruction of Hypocretin Neurons and resultant narcolepsy?
MHC class II
What are the three major categories of cancer-causing genes?
Tumour Suppresspor genes
Oncogenes
Genes that participate in DNA repair
A patient with Agammaglobulinaemia will have some degree of immunity for a short while after birth due to a temporary supply of which immunoglobulin from the mother?
IgG
Mutation in which BMP family gene causes fusion of the bones in various joints?
Noggin
Sensitivity of a medical test measures the ability to correctly identify:
True Positives
or
False Negatives
True Positives
Patient with adrenocortical Carcinoma or Choroid Plexus Tumour, Irrespective of family history
is one diagnostic criteria for what syndrome?
Li-Fraumeni Syndrome
In the autosomal recessive disease Galactosaemia, mutations in which gene will cause cataracts?
- GALT*
- GALK1*
- GALE*
GALK1
An effective Diagnostic test is desirably of a high:
Sensitivity
or
Specificity
Specificity
The enzyme Activation Induced Deaminase is important for what process?
Somatic Hypermutation
Ineffective platelets, eczema and T-Cell abnormalities leading to susceptibility to opportunistic infections are a feature of which X-Linked Recessive disease?
Wiskott-Aldrich Syndrome
What theta value will two independantly assorting genes have?
0.5
On what chromosome is RB1, the retinoblastoma causing gene located?
13
Achondroplasia, the most common short-limbed dwarfism, is caused by mutations on chromosome 4, at location 4p16 - what gene is encoded there?
FGFR3
The hypothesis that most genes require two mutations to cause a phenotypic change is known as:
The Two-Hit model of carcinogenesis
or
The Knudson Hypothesis
The establisment of the trilaminar structure of embryonic development (Ectoderm, Endoderm, Mesoderm) is established in days 14-28 of gestation, what is this process referred to as?
Gastrulation
On which chromosome (and arm) will the genes encoding the Major Histocompatibility Complex be found?
Short arm, Chromosome 6
The WASP protein is required by erythrocytes in order to form cell-to-cell attachment - patients with Wiskott-Aldritch System will have what defect as a result?
Reduced ability to form blood clots
Reducing the distance between loci of syntetic genes will increase or decrease the recombination frequency?
Decrease
Which nucleotide base is changed to what, during the first stages of somatic hypermutation?
Cytosine to Uracil
Erythroblastosis Fetalis is a hemolytic disease resulting in spontaneous abortion of the fetus - what gene is responsible?
RH blood gene
What unit is used to measure the distance between loci of genes?
cM
Centimorgans
What is a Carcinoma?
Tumors of epithelial tissues
Mutations in CYP21A2 are associated with which disease?
Congenital Adrenal Hyperplasia
Curly wooly hair and a webbed neck are features of Noonan Syndrome - this is caused by mutation of what gene?
RAS-MAKP
What is the relatonship between 1 cM (centimorgan) and theta?
0.01 theta : 1 cM
What is the medical term for tumours of the Haematopoietic Organs?
Leukaemias
The Complement molecules of the immune system are coded by which class of Major Histocompatibility Complex?
Class III
Somatic recombination in the production of immune cell receptors are combinations of which genes?
VDJ Genes
Marfan syndrome is a result of mutation in which of the following gene products:
- Fibrillin-1*
- Elastin*
Fibrillin-1
What is the medical term for an abnormal number of chromosomes within a cell?
Aneuploidy
Thanatophoric Dysplasia, a severe skeletal malformation disease, is caused by mutation of which particular growth factor gene?
FGFR3
Hirschprung disease is a common feature of birth defects such as Trisomy 21 and Waardenburg Syndrome - what causes Hirschprung Disease?
Lack of developement of the Enteric Nervous System
What is the medical term for tumours of the connective tissues?
Sarcoma
According to the two-hit (Knudson) theory, in order for a cell to initiate a tumour it must have:
Two damaged alleles
Mutation in one of the four FGFR’s, FGFR3, causes what developmental disease?
Thanatophoric Dysplasia
PPV (Positive predictive value) measures the ability to:
Detect the presence of a disease
or
Detect the absence of a disease
Detect the presence of a disease
In the autosomal recessive disease Galactosaemia, mutations in which gene will cause the most common and severe form?
- GALT*
- GALK1*
- GALE*
GALT
What family of genes was named after the wingless fruit fly?
WNT genes
An effective screening test is desirably of a high:
Sensitivity
or
Specificity
Sensitivity
In what disease are the phagocytes able to take in bacteria and fingi, but unable to kill them?
CGD
Chronic Granulomatous Disease
Regarding tumours, what does monoclonal mean?
Cells derived from a single ancestral cell
Inherited Brachydactyly (short digits) results from what type of mutation of CDMP 1 genes?
Misense
or
Nonsense
Nonsense
Amplification of DNA for cloning or analysis is done by a process of what name?
PCR
Polymerase Chain Reaction
What is the medical term for tumours of the Lymphatic Tissues?
Lymphomas
What is the role of SHH (sonic the Hedgehog) proteins in axial development?
Setting up left and right sides of the body
Whatis the definition of Leukaemias?
Tumours of the haematopoietic organs
What are the three steps of a PCR (Polymerase Chain Reaction) analysis?
Denaturation
Annealing
Extension
What immunodeficient disease is charachterised by deficient MHC class I expression?
Type I BLS
<em>Bare Lymphocyte Syndrome</em>
Somatic Hypermutation can occur in genes that encode T-Cell receptors.
True or False?
False
X-Linked recessive and Autosomal Recessive Chronic Granulomatous Disease results in lesion most common in which are of the body?
The lungs
Supravalvular Aortic Stenosis results from mutations in which of the following gene products?
- Fibrillin-1*
- Elastin*
Elastin
Which of the following paracrine signalling molecules plays a role in axial development:
- WNT* (wingless genes)
- or*
Fibroblast Growth Factor
WNT
What are Lymphomas?
Tumours of the lymphatic tissues
how does the H1N1 vaccine Pandermix attack Hypocretin Neurons?
modified CD8 T-cells cross the blood-brain barrier.
What will be the Theta value of two completely linked genes?
0
Tumour cells derived from a single ancestral cell are known as:
Monoclonal cells
What is the medical tem for tumours of the epithelial tissues?
Carcinoma
What type of hypothalamic neurons are lost in Narcolepsy?
Hypocretin (Orexin) producing neurons
By what mechanism does Cytomegalovirus avoid detection by cytotoxic T-Cells?
Downregulation of MHC class 1 Genes
The autosomal Dominant disorders Holoprosencephaly and Grieg Cephalopolysyndactyly Syndrome, are caused by mutation of which protein signalling pathway?
(sonic) Hedgehog Signalling Pathway
Rh blood disease causes what condition in unborn children?
Erythroblastosis Fetalis
Which of the three classes of MHC is used in the function of T-Cell receptors of Cytotoxic T-Lymphocytes?
Class I
Why does the second pregnancy from an Rh positive father usually result in erythroblastosis Fetalis, rather than the first?
The detachment of the placenta causes the Rh+ blood to enter the mother’s circulation
NADPH Oxidase is the enzyme missing in which form of Chronic Granulomatous Disease, X-Linked or Autosomal Recessive?
Autosomal Recessive
What is the name of the process by which ordered spatial arrangements of differeintiated cells create distinct tissues and organs in an organism?
Pattern Formation
Using the Knudson Hypothesis, explain the earlier onset of Retinoblastoma in a child with an affected parent?
The inerited mutation has provided the ‘first hit’ already
What is the inheritance risk of retinoblastoma if one parent is affected?
50%
Mutations in the transcription factor encoded by TBX5 can lead to what syndrome?
Holt-Oram syndrome
The limb development disorder Holt-Oram syndrome is caused by mutations in a gene encoding a transcription factor by what name?
TBX5
Rostrocaudal symmetry of axial development is regulated by proteins expressed by what genes?
Sonic the Hedgehog Genes
SHH
In X-Linked Chronic Granulomatous Disease, the patient does not produce a particular protein which is required by phagocytes in order to destroy the bacteria and fungi that they endocytose - what is this protein?
Cytochrome-B
TAP2 Mutation is associated with which autosomal recessive disease?
Bare Lymphocyte Syndrome
In the cellular immune response, by what mecanism are viral peptites brought to the cell surface to display and attract T-Cells?
MHC
What is the medical term for a factor which has caused a mutation to take place?
Mutagen
What are the four major families of Paracrine Signalling molecules?
Fibroblast Growth Factor
Hedgehog
Wingless
Transforming Growth Factor
Four Hedgehogs Walk Together
Cancers that may be intergenerational are cancers of somatic cells or germline cells?
Germline cells
What protein, when phosphorylated binds to E2F to arrest the cell cycle?
pRb
What disease is also known as Bubble Boy disease?
SCID
Endogenous antigens are presented by MHC proteins of class I or II?
Class I
BRCA genes are associated with which type of cancer?
Breast cancer
What are three forms of signals which instruct cells to stop growing in size?
Signalling Molecules
Contact Inhibition
Hayflick Number (Internal programmed limits)
What is a Sarcoma?
Tumours of connective tissues
Bacterial molecules that act as scissors to cleave foreign viral DNA in the cytosol that are useful in DNA analysis are known as:
Restriction Enzymes
Ankylysing Spondylosis is a result of mutations in what gene?
(Gene and Locus)
MHC Class I - Locus B27
A child who shows a white reflex (reflection) in the pupil of one eye in a flash-lit photograph is suspected to have what condition?
Retinoblastoma
