Week 3 Flashcards by Pineapple Marmelade

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

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In autosomal recessive Chronic Granulomatous Disease, which enzyme, critical for phagocytosis is missing?

NADPH oxidase

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What are the two major Tumour Suppressor genes?

RB1*
TP53*

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X-Linked Agammaglobulinaemia, a B-Cell disease, will result in a patient who lacks what?

All immunoglobulins

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Genes that are considered syntetic are:

Found on the same chromosome

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NPV (Negative predictive value) measures the ability to:

Detect the presence of a disease

Detect the absence of a disease

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Specificity of a medical test measures the ability to correctly identify:

True Positives

False Negatives

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Exogenous antigens are presented by MHC proteins of class I or II?

Class II

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Craniosyntosis is caused by mutation in which family of genes?

FGFR genes

_{<em>(Fibroblast Growth Factor)</em>}

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What does tetra-amelia mean?

Lack of all four limbs

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IRT (Immunoreactive Trypsinogen) is the subject of a diagnostic test for what disease?

Cystic Fibrosis

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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

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Mutation in what gene gives rise to the X-Linked Recessive disease Wiskott-Aldrich Syndrome?

WAS Gene

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Why is the p53 protein (via TP53 gene) of intrest in tumour pathology?

p53 regulates apoptosis and cell cycle arrest

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What immunodeficient disease is charachterised by deficient MHC class II expression?

Type II BLS

_{Bare Lymphocyte Syndrome}

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The mosaic distribution of overgrowth in Proteus Syndrome is caused by mutation in what gene?

AKT1

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What type of mutations result in destruction of Hypocretin Neurons and resultant narcolepsy?

MHC class II

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What are the three major categories of cancer-causing genes?

Tumour Suppresspor genes

Oncogenes

Genes that participate in DNA repair

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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

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Mutation in which BMP family gene causes fusion of the bones in various joints?

Noggin

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Sensitivity of a medical test measures the ability to correctly identify:

True Positives

False Negatives

True Positives

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Patient with adrenocortical Carcinoma or Choroid Plexus Tumour, Irrespective of family history

is one diagnostic criteria for what syndrome?

Li-Fraumeni Syndrome

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In the autosomal recessive disease Galactosaemia, mutations in which gene will cause cataracts?

GALT*
GALK1*
GALE*

GALK1

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An effective Diagnostic test is desirably of a high:

Sensitivity

Specificity

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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?

**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 ## Footnote *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: ## Footnote * 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? ## Footnote * 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 ## Footnote *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 ## Footnote *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 _{Bare Lymphocyte Syndrome}

**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? ## Footnote * 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?

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 ## Footnote *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?

**F**ibroblast Growth Factor **H**edgehog **W**ingless **T**ransforming 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? ## Footnote *_{(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

Week 3 Flashcards

(101 cards)