Final Flashcards by Pineapple Marmelade

Which sampling method will provide earlier analysis of foetal DNA:

Chorionic Villus Sampling

Amniocentesis?

Chorionic Villus Sampling

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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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Ankylysing Spondylosis is a result of mutations in what gene?

_{(Gene and Locus)}

MHC Class I - Locus B27

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Which Cyclin Dependant Kinase inactivates the ORC (Origin Recognition Complex)?

S-Cdk

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Chromosomes of what morphology may be subject to Robertsonian Translocation?

Acrocentric

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Traits occuring in only one sex due to anatomical differences are classified as:

Sex-limited Traits,

Sex-Influenced Traits?

Sex-Limited Traits

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Where is the site of original de-novo mutation in Germline Mosaicism?

The embryo

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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

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In the autosomal recessive disease Galactosaemia, mutations in which gene will cause the most common and severe form?

GALT*
GALK1*
GALE*

GALT

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The autosomal Dominant disorders Holoprosencephaly and Grieg Cephalopolysyndactyly Syndrome, are caused by mutation of which protein signalling pathway?

(sonic) Hedgehog Signalling Pathway

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Behaviour of Enhancer and Silencer regions of DNA during transcription are regulated by:

What type of cell the DNA is located in

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A nucleocapsid consists of what two materials?

Capsid Protein

Genetic material (DNA or RNA)

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Genetic conditions such as Marfan’s Syndrome with a spectrum of mild to severe features is conisdered to have:

Variable Expressivity

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

NADPH oxidase

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What process is required to trigger the degradation of M-Cyclin after mitosis?

Ubiquitination

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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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Ribosomal subunits of 40S and 60S are associated with prokaryotes or eukaryotes?

Eukaryotes

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Thanatophoric Dysplasia, a severe skeletal malformation disease, is caused by mutation of which particular growth factor gene?

FGFR3

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Bacteria which have mutated to resist antibiotic drugs will eventually become the majority of the population of that particular bacteria - is this horizontal or vertical resistance gene transfer?

Vertical

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Swyer Syndrome results from an error in the SRY / SOX9 crossover process, does this result in an XX Male, or an XY Female?

XY Female

_{Also Known as XY Gonadal Dysgenesis}

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in MILS (Maternally-inherited Leigh Syndrome) what is encoded by the affected gene, MT-ATP6?

ATP synthase

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What is the typical recurrence risk for an Autosomal Recessive disease?

25%

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What are the three steps of a PCR (Polymerase Chain Reaction) analysis?

Denaturation

Annealing

Extension

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What are the three forms of Tay-Sachs disease?

Infantile

Juvenile

Adult/Late

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Does genetic testing reveal mutations, or the presence of disease?

Mutations

What are the molecules which toggle DNA replication and cell division activities?

Cyclins

Which of the following paracrine signalling molecules plays a role in **axial development**: * WNT* (wingless genes) * or* Fibroblast Growth Factor

*WNT*

The enzyme **Activation Induced Deaminase** is important for what process?

Somatic Hypermutation

Double stranded DNA is the mechanism of gene therapy in: Adeno-Associated Vector or Adenovirus Vector?

Adenovirus vectors

RNA is probed by Northern or Southern blotting?

Northern

Erythroblastosis Fetalis is a hemolytic disease resulting in spontaneous abortion of the fetus - what gene is responsible?

RH blood gene

**Non-ionising** radiation may have the following effect on DNA: Single or double stranded breaks in DNA backbones *or* Binding of adjacent Thymine bases to one another

Binding of adjacent Thymine bases to one another

DNA Polymorphisms such as SNPs or STRs can be used as markers in what type of diagnostic tests?

Linkage Analysis

S-Cdk causes the inactivation of ORC by destruction of Cdc6, why?

To prevent re-replication _{(DNA is replicated ONCE during the cell cycle)}

What type of **newborn** screening test is used to detect **protein variants** that signal **amino acid disorders**?

Tandem Mass Spectrometry

The two structures of viral genomes, *Circular* and *Linear*, are both further broken down in what two classifications?

Segmented Non-Segmented

In the Hardy-Weinberg Law formula: *p*²*+ 2pq + q*² = 1 , what does the 2pq represent in terms of alleles?

Frequency of the *Aa* combination

In a dominant gene disease, which allele is pathogenic, ***d*** or ***D***?

***D***

Cri-du-chat Syndrome is a resut of a deletion or a translocation of chromosome 5?

Deleted

Which of the following virii are able to be used directly as mRNA for protein synthesis? ssRNA (+) ssRNA (-)

ssRNA (+)

Are proteins encoded by rRNA?

What enzyme joins Okazaki fragments along the lagging strand together to form a complete strand (parallel to the parent?)

DNA Ligase

What is the name of the deactivated X chromosomes in the cells of women?

Barr bodies

By what mechanism does **Cytomegalovirus** avoid detection by **cytotoxic T-Cells**?

Downregulation of MHC class 1 Genes

**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

A male inheriting an X-Linked dominant disease would have gained the allele from the mother or the father?

Mother

What is the medical term for a **factor** which has caused a **mutation** to take place?

Mutagen

The **Complement** molecules of the immune system are coded by which class of **Major Histocompatibility Complex**?

Class III

In X-Linked Recessive diseases, why is maternal transmission of disease always expressed in sons?

Males do not have a compensatory allele for the affected X-Chromosome gene

What is the medical tem for tumours of the **epithelial tissues**?

Carcinoma

Ribosomal subunits of 50S and 30S are associated with prokaryotes, or eukaryotes?

Prokaryotes

Hereditary non-polyposis colon cancer is also known as:

Leisch Nyhan syndrome

DNA is read in the 3' ⇒ 5' direction, hence DNA is synthesised in the:

5' ⇒ 3' direction

The Prader-Willi gene on chromosome 15 is active, or inactive in maternal chromosomes?

Inactive

What is the phenomenon that describes defective genes in different chromosomes causing the same disease?

Locus Heterogeneity

Curly wooly hair and a webbed neck are features of **Noonan Syndrome** - this is caused by mutation of what gene?

*RAS-MAKP*

An effective **screening** test is desirably of a high: Sensitivity *or* Specificity

Sensitivity

The probability of a child having a genetically inherited disease is proportional to the number of siblings they have. True or False?

False.

Two non-homologous acrocentric chromosomes loose their short arms *(P)*, and the residual long arms (*Q)* fuse to form one long chromosome - what is this phenomenon refererred to as?

Robertsonian Translocation

**Sensitivity** is given as a function of **true positives**, divided by:

True positives + False Negatives

25% of cases of Prader-Willi syndrome are caused by uniparental disomy of chromosome 15 - what does this mean?

The child inherits both copies of Chromosome 15 from the same parent ## Footnote *_{(Maternal in this case)}*

HOX genes clusters consist of normal genes, and what?

Pseudogenes

**Supravalvular Aortic Stenosis** results from mutations in which of the following gene products? ## Footnote * Fibrillin-1* * Elastin*

Elastin

What is the medical term for an abnormal number of chromosomes within a cell?

Aneuploidy

What is Pleitropy?

single genes having more than one discernible effect on the body

What will be the **Theta value** of two completely linked genes?

What is the purpose of maintenance methylation?

methylating newly synthesised strands of DNA

Gene therapy with **antisense oligonucleotides** corrects for what type of mutations?

Gain of function mutations

**Proteins** are the subject of: Southern Blotting Western Blotting Northern Blotting?

Western Blotting

Sickle Cell disease Tay-Sachs disease Cystic Fibrosis Phenylketonuria These disease are detected by what type of screening?

Heterozygote screening

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

Cystic Fibrosis

*A needle passed through the abdomen to collect samples for analysis* describes: Chorionic Villus Sampling or Amniocentesis

Amniocentesis

The carbon ring in a nucleotide contains 4 or 5 Carbons?

4 Carbons

When calculating the frequency of alleles, the number (*n*) of homozygous (*AA*) or heterozygous (*Aa*) samples must be doubled before dividing by 2N?

Homozygous (*AA*)

What is the most straightforward method of epigenetic control?

DNA Methylation

During conjucation by bacteria, genetic material travelling through the sex pilus originates from the: Bacterial Chromosome *or* a Plasmid?

Plasmid

The subunit formed by DNA wrapped around eight histones is known as a:

Nucleosome

If some people with a mutation of a gene do not develop the features of the disorder, the condition is said to have:

A reduced penetrance

What is the typical recurrence risk of an autosomal recessive disease?

25%

During methylation, which enzyme adds the first methyl group? *de novo* methylase or Maintenance methylase

*de novo* methylase

Rostrocaudal symmetry of axial development is regulated by proteins expressed by what genes?

Sonic the Hedgehog Genes ## Footnote *SHH*

Myotonic Dystrophy is an autosomal dominant, or recessive disease?

Autosomal Dominant

Continuation of the leading strand of DNA is done by which Polymerase?

DNA Polymerase *Epsilon*

Exonucleases perform what function?

Error checking and correction

What component of the Helicase (MCM) is destroyed by S-Cdk?

Cdc6

Resistance gene transfer that is achieved by absorption of new DNA from the external environment is an example of: * Conjugation* * Transduction* * Transformation*?

Transformation

In **mitochondrial replacement therapy**, in which method is repair carried out **before fertilisation**? Pronuclear Transfer Maternal Spindle Transfer

Maternal Spindle Transfer

A section of DNA incorporated in to the bacterial chromosome by a virus is known as a:

Prophage

In what disease are the phagocytes able to take in bacteria and fingi, but unable to kill them?

CGD ## Footnote *Chronic Granulomatous Disease*

Inherited Brachydactyly (short digits) results from what type of mutation of *CDMP 1* genes? Misense *or* Nonsense

Nonsense

Transduction of non-dividing cells in gene therapy requires what vector?

Adeno-associated virus

Which feature of a DNA strand encodes proteins? Exons or Introns?

Exons

Which genetic disease is linked to eating fava beans and some oxidative drugs?

G6PD deficiency

What is the diploid number for human somatic cells?

**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

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

*Noggin*

The person about who's future offspring the genetic analysis refers, is known as:

The consultand

What is the purpose of Alternative Splicing in protein synthesis?

Allowing for multiple RNA/Proteins to be produced from the same set of exons.

What are the two forms of Huntington's Disease?

Adult Onset Juvenile Onset

What are **Lymphomas**?

Tumours of the lymphatic tissues

What is the **inheritance risk** of **retinoblastoma** if one parent is affected?

50%

With relation to chromosome 15, by what three mechanisms will a patient develop either Prader-Willi Syndrome or Angelman Syndrome?

Uniparental disomy Defective imprinting Deletion

Adenine and Guanine are: Purines or Pyramidines?

Purines

A law states\* that genotype and allele frequencies will always remain constant from generation to generation - what is this law? *_{*provided certain criteria are met}*

Hardy-Weinberg Law

What disease is also known as **Bubble Boy** disease?

SCID

What is a **Sarcoma**?

Tumours of connective tissues

What sequences upstream from the gene promoter site function to regulate DNA transcription to RNA?

Enhancers and Silencers

Is Male Pattern Baldness a Sex-Limited trait, or a Sex-Influenced trait?

Sex-Influenced Trait

Mutations in ***CYP21A2*** are associated with which disease?

Congenital Adrenal Hyperplasia

What are the three types of horizontal resistance gene transfer in bacteria?

Transformation Conjugation Transduction

Genetic material, combined with Capsid Protein is known as a:

Nucleocapsid

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 are the two morphological structures of viral genomes?

Linear Circular

Reducing the distance between **loci** of **syntetic** genes will *increase* or *decrease* the **recombination frequency**?

Decrease

Pairs of sister chromatids are joined by a special DNA sequence known as a:

Centromere

What does Haplosufficient mean?

Accounting for any mutation, there are sufficient proteins produced to maintain homeostatic function

The Angelman Syndrome gene on chromosome 15 is active, or inactive in maternal chromosomes?

Active

Father to son transmission of genetic disease is an attribute of Autosomal Dominant, or Autosomal Recessive?

Autosomal Dominant

According to the two-hit (Knudson) theory, in order for a cell to initiate a tumour it must have:

Two damaged alleles

**Specificity** of a medical test measures the ability to correctly identify: True Positives *or* False Negatives

False Negatives

Is mitochondrial inheritance maternal, or paternal?

Maternal

What are the three classes of **prenatal** diagnosis of genetic disorders?

Invasive Diagnostic Testing Foetal Visualisation Techniques Population Screening

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

All immunoglobulins

X linked dominant diseases passed down from the mother are seen in boys, girls, or both?

Both

What is the mechanism of muscle wastage in Pompe disease?

Lysosomes are unable to break down glycogen Swollen lysosomes disrupt muscle cell function

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

*WAS* Gene

What is the function of *Operons*?

Regulating gene expression in prokaryotes

Mutation in one of the four *FGFR*'s, ***FGFR3***, causes what developmental disease?

Thanatophoric Dysplasia

Mutations in the transcription factor encoded by ***TBX5*** can lead to what syndrome?

Holt-Oram syndrome

DNA molecules are antiparallel, meaning DNA is: \_\_\_\_\_ in the 3' ⇒ 5' direction, \_\_\_\_\_ in the 5' ⇒ 3' direction.

Read in the 3' ⇒ 5' direction, Written in the 5' ⇒ 3' direction.

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

A disorder affecting chromosome 11 causes downregulation of growth factor, is this disease: Beckwith-Weidemann Syndrome or Silver-Russel Syndrome?

Silver-Russel Syndrome

Craniosyntosis is caused by mutation in which family of genes?

*FGFR* genes _{(Fibroblast Growth Factor)}

In a recessive gene disease, which allele is pathogenic, ***d*** or ***D***?

***d***

A new gene formed at the interface between two translocated chromosome is known as:

An Oncogene

*TAP2* Mutation is associated with which autosomal recessive disease?

Bare Lymphocyte Syndrome

What family of genes was named after the *wingless fruit fly*?

*WNT* genes

*De novo* methylase adds methyl (CH₃) groups to what locations on the DNA molecule?

CG Islands

"Common in Africans, African Americans and Mediterranian peoples." Is this a feature of Sickle Cell anaemia, or Tay Sachs disease?

Sickle Cell anaemia

how many generations are required to be examined to qualify a '*complete*' history, regarding genetic disease?

Three

The Angelman Syndrome gene on chromosome 15 is active, or inactive in paternal chromosomes?

Inactive

What is the medical term for tumours of the **Haematopoietic Organs**?

Leukaemias

What is the typical recurrence risk for an Autosomal Dominant disease?

50%

The Parental DNA strand is the *Sense* or *Antisense* strand?

Antisense

Chromosomes are synthesised during G₁ phase of the cell cycle. True or False?

False

During the first stage of gene silencing, what molecule is attracted to the methylated CG-Islands?

Methylcytosine-binding protein (MeCP)

Why do females display a lower severity of symptoms in Fragile X Syndrome than males?

Females have two copies of the X chromosome, one may be a normal copy (Females are mosaic)

The Hayflick Limit refers to what aspect of DNA replication?

Shortening of Telomeres, as DNA strands must be built in the 5' ⇒ 3' direction

The **probability** that the child of a patient may inherit a particular disease is known as:

Recurrence Risk

What is a synonym for Helicase?

MCM

Which of the **three classes of MHC** is used in the function of T-Cell receptors of **Cytotoxic T-Lymphocytes**?

Class I

What is the relatonship between **1 cM** (centimorgan) and **theta**?

0.01 theta : 1 cM

De La Chapelle Syndrome results from an error in the *SRY / SOX9* crossover process - Does this result in an XX Male, or an XY Female?

XX Male

*_Which_* nucleotide base is changed to *_what_*, during the first stages of **somatic hypermutation**?

Cytosine to Uracil

Why will uniparental disomy of chromosome 15 cause either Prader-Willi or Angelman Syndrome?

Active and Inactive PWS and AS regions are sex-dependant ## Footnote *_{(Maternal or Paternal)}*

X-Linked recessive and Autosomal Recessive Chronic Granulomatous Disease results in lesion most common in which are of the body?

The lungs

**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

during the second stage of gene silencing, Histone Deacetylase (HDAC) binds to both:

MeCP and DNA

Are nucleotide sequences retained in non-homologous end joining (NHEJ) repair?

On which chromosome is the locus of the genes involved in IGHD Dwarfism?

What molecule must first bind with the *Ori* to initiate the assembly of the MCM (Helicase)?

ORC Ori Recognition Complex

The limb development disorder **Holt-Oram syndrome** is caused by mutations in a gene encoding a **transcription factor** by what name?

*TBX5*

List the five Nitrogenous Bases:

Guanine Cytosine Adenine Thymine Uracil

is X-Linked Dominant disease transmission possible between fathers and sons?

Drug resistance gene transfer that is carried out through cell division is an example of *vertical* or *horizontal* gene transfer?

vertical

What are the two methods of **mitochondrial replacement therapy**?

Pronuclear Transfer Maternal Spindle Transfer

On what chromosome is the gene *GAA* encoded, which is responsible for the lysosomal breakdown of glycogen in muscle cells?

A mutation in a trinucleotide results in the replacement of Leucine with Proline - is this a nonsense or a missense mutation?

Missense mutation

Robertsonian Translocation occurs between two Homologous or Non-Homologous pairs of chromosomes?

Non-homologous

Are mitochondrial diseases inherited from the mother, father, or either parent?

Mother

is Methylcytosine-binding protein (MeCP) the first or second molecule used in gene silencing?

First

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

Class II

Rh blood disease causes what condition in unborn children?

Erythroblastosis Fetalis

**Somatic Hypermutation** can occur in genes that encode **T-Cell receptors**. True or False?

False

BRCA genes are associated with which type of cancer?

Breast cancer

Xeroderma Pigmentosum is a disease caused by mutations in genes encoding what proteins?

Nucleotide Excision Repair enzymes

What aspect of pedigree should be considered when a rare recessive disease is discovered?

Cosanguinity

M-Cyclin begins accumulating during which phase of the cell cycle?

G₂

What enzyme makes retroviruses unique?

DNA Reverse Transcriptase

What are the two major **Tumour Suppressor** genes?

* RB1* * TP53*

What is the most important factor in calculating **recurrence risk**?

*How* the disease is inherited

What Physical phenomenon is responsible for Hydrophobic and Hydrophlic interactions in the tertiary structure of proteins?

Van Der Waal's forces

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 ## Footnote *Adenosine Deaminase*

Chronic Myelogenous Leukaemia results from translocation of most of chromosome 22 on to the long arm of chromosome 9 in haematopoetic stem cells, what is this new hybrid chromosome known as?

The Philadelphia Chromosome

How many individual chromosomes are found in a cell during S phase?

What is the purpose of the methylated CG-Islands in DNA methylation?

Interfering with DNA transcriptase activity

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

MHC class II

Anticipation of genetic disease (Progresive worsening between generations) is caused by what?

Trinucleotide Repeat Expansion mutation

An effective **Diagnostic** test is desirably of a high: Sensitivity *or* Specificity

Specificity

IRT, Immunoreactive Trypsinogen, is the subject of a diagnostic test for what genetic disease?

CF Cystic Fibrosis

Which sugar component of DNA and RNA is rich in oxygen?

RNA

Prior to AP Endonuclease and Phosphodiesterase removing a sugar molecule from DNA during repair, what enzyme must first act on the site of a nucleotide mismatch?

DNA Glycosylase

What is *the point on a chromosome where replication starts* known as?

*Ori*

What is the purpose of Polysomes?

allowing multiple proteins to be produced from the same mRNA simultaneously

DNA Ligase is required to complete strands created by: DNA Polymerase ε or DNA Polymerase δ

DNA Polymerase δ

On what chromosome is *RB1*, the **retinoblastoma causing gene** located?

5' Caps and Poly-A tails are features of Prokaryotic or Eukaryotic mRNA?

Eukaryotic mRNA

Somatic recombination in the production of immune cell receptors are combinations of which genes?

VDJ Genes

Tumour cells derived from a **single ancestral cell** are known as:

Monoclonal cells

Which complex of the electron transport chain does not utilise mitochondrial DNA for its synthesis?

Complex II

What unit is used to measure the distance between loci of genes?

cM ## Footnote *Centimorgans*

How many of the parents must be carriers of the defective gene in order for one of their offspring to express an autosomal recessive disease?

Both

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

What substrate must accumulate in the cytoplasm in order for mitosis to be triggered by cyclin-dependant kinase (Cdk)?

M-Cyclin

What **theta value** will two independantly assorting genes have?

0.5

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

Which amino acids are unable to be metabolised in **maple syrup urine** disease?

Leucine, Isoleucine, Valine

The *Ori* of chromosomes are rich in AT pairs, why?

Two H-bonds (as opposed to 3 in CG)

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

What is the most common single-gene mutation disorder of carbohydrate metabolism?

Galactosaemia

Maternal foetal protein will peak lower than the normal value in a test indicative of: Down Syndrome *or* Open Spina-Bifida?

Down Syndrome

What does LINEs stand for in DNA types?

Long Interspersed Elements

Whatis the definition of **Leukaemias**?

Tumours of the haematopoietic organs

"Common in Ashkenazi Jews and French Canadian peoples." Is this a feature of Sickle Cell anaemia, or Tay Sachs disease?

Tay Sachs Disease

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

*AKT1*

**Achondroplasia**, the most common short-limbed dwarfism, is caused by mutations on chromosome 4, at location 4p16 - what gene is encoded there?

*FGFR3*

Both alleles affecting the phenotype are a feature of what type of inheritance?

Codominant Inheritance

DNA is probed by Northern or Southern blotting?

Southern

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

In the Hardy-Weinberg Law formula: p² + 2pq + q² = 1 , what does the p² represent in terms of alleles?

Frequency of *AA*

What is the role of SHH (sonic the Hedgehog) proteins in axial development?

Setting up left and right sides of the body

What is the function of *Xist* RNA?

Inactivation of X Chromosomes

Defective duplicate genes found in eukaryotic cells are known as:

Pseudogenes

What are three forms of signals which instruct cells to stop growing in size?

Signalling Molecules Contact Inhibition Hayflick Number *_{(Internal programmed limits)}*

Females are considered genetic mosaics with regard to X-Linked genetic traits - what does this mean?

She will express X-linked alleles from both her mother and her father

Virii are *Obligate Parasites* - what does this mean?

They require the use of host machinery to reproduce

Regarding **tumours,** what does **monoclonal** mean?

Cells derived from a single ancestral cell

What type of genes regulate axial development of the embryo?

HOX gene clusters

What sequence precedes an exon along a DNA strand?

Promoter region _{(Includes the TATA box)}

The template strand is the sense or antisense strand?

Sense strand

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

Tay Sachs Disease: Autosomal Dominant, or Recessive?

Autosomal Recessive

What does *tetra-amelia* mean?

Lack of all four limbs

On which chromosome (and arm) will the genes encoding the **Major Histocompatibility Complex** be found?

Short arm, Chromosome 6

A disorder affecting chromosome 11 causes upregulation of growth factor, is this disease: Beckwith-Weidemann Syndrome or Silver-Russel Syndrome?

Beckwith-Weidemann Syndrome

Robertsonian Translocation occurs during: Gametogenesis or Embryonic Cell Division?

Gametogenesis

Resistance gene transfer that is achieved by introduction of new DNA by Bacteriophage (Virii) is an example of: * Conjugation* * Transduction* * Transformation*?

Transduction

At the present time, what are the only targets of **Gene Therapy**?

Somatic Cells

Albinism: Autosomal dominant, or recessive?

Autosomal Recessive

What protein, when phosphorylated binds to E2F to arrest the cell cycle?

pRb

Three hydrogen bonds wil be found between which two Nitrogenous Bases?

Cytosine and Guanine

In the cellular immune response, by what mecanism are viral peptites brought to the cell surface to display and attract T-Cells?

MHC

List four types of **invasive prenatal** diagnostic methods for genetic disorders:

Amniocentesis Chorionic Villus Sampling Percutaneous Umbilical blood sampling Preimplantation Genetic Diagnosis

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

During which phase of the cell cycle does G₁/S-Cyclin activity peak?

G₁

**Ionising** radiation may have the following effect on DNA: Single or double stranded breaks in DNA backbones *or* Binding of adjacent Thymine bases to one another

Single or double stranded breaks in DNA backbones

What is the medical term for tumours of the **Lymphatic Tissues**?

Lymphomas

What is unique about Introns found in LINEs? (Long Interspersed Elements)

A coding sequence

NIPS, Non-invasive Prenatal Screening, draws DNA samples from where?

Maternal circulation

How early can foetal DNA be detected in the maternal circulation?

6 to 8 weeks post LMP

The process of forming Barr Bodies with *Xist* RNA is known as:

Lyonisation

What is the typical recurrence risk of an autosomal dominant disease?

50%

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}*

in CAH, 21-Hydroxylase deficiency results in a patient unable to produce which two hormones?

Aldosterone, Cortisol

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

Which molecular screening tool is the most commonly used tool for genetic diagnosis?

Direct Mutation Analysis

In transduction, the incorporation and proliferation of Phage DNA in to the chromosome of the host bacteria is known as: Lysogenic Cycle Lytic Cycle

Lysogenic

Which cyclin is the longest acting during the cell cycle? G₁/S-Cyclin S-Cyclin M-Cyclin

S-Cyclin

are expressed Pseudogene mRNA used for protein transcription?

Alu elements (Named for the Alu 1 Restriction enzyme) are what type of DNA genes?

Short Interspersed Elements SINEs

Continuation of the lagging strand is carried out by which DNA Polymerase?

DNA Polymerase *Gamma*

In transduction, phage DNA that utilises bacterial machinery to produce more copies of the virus (with the view to release from the cell) is known as: The Lysogenic Cycle The Lytic Cycle

Lytic cycle

**Sensitivity** of a medical test measures the ability to correctly identify: True Positives *or* False Negatives

True Positives

What do geneticists mean by anticipation?

Severity of the disease and earliness of onset increases as the disorder is passed from one generation to the next

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

**Specificity** is given as a function of **True negatives**, divided by:

True negatives + False Positives

**NADPH Oxidase** is the enzyme missing in which form of **Chronic Granulomatous Disease**, *X-Linked* or *Autosomal Recessive*?

Autosomal Recessive

What does Wild Type refer to in protein synthesis?

Proteins produced by healthy genes before any mutation

What is the medical term for tumours of the **connective tissues**?

Sarcoma

In MILS, what type of error occurs with the gene MT-ATP6 which encodes the ATP synthase complex?

Substitution mutation

In the Hardy-Weinberg Law formula: p² + 2pq + q² = 1 , what does the q² represent in terms of alleles?

Frequency of *aa*

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

Tumour Suppresspor genes Oncogenes Genes that participate in DNA repair

how does the **H1N1 vaccine** *Pandermix* attack **Hypocretin Neurons**?

modified CD8 T-cells cross the blood-brain barrier.

Specialised E.Coli bacteria deprived of phenylalanine are used in a petrie dish alongside blood samples to detect what disorder?

Phenylketonuria

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

Type I BLS _{Bare Lymphocyte Syndrome}

At what phase of the cell cycle does the *error checking* of chromosomes formed during S phase occur?

G₂

the BRCA1 and BRCA2 genes associated with cancer of the breasts encodes proteins with what funciton?

DNA Repair

List three methods of **foetal visualisation** techniques:

Ultrasonography Radiography Magnetic Resonance Imaging

Fragile X Syndrome is typically more severe in males, or females?

Males

**Marfan syndrome** is a result of mutation in which of the following gene products: ## Footnote * Fibrillin-1* * Elastin*

*Fibrillin-1*

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

Class I

The Ori found along a chromosome consist of sequences rich in which nucleotide pairs? AT or CG

What does Haploinsufficient mean?

Affected genes do not produce enough proteins to fulfil their designated function

The physical signs of Phenylketonuria are subtle, and mainly present as:

Developmental delay

Prenatal diagnostic analysis of blastomeres indicates **Aongenital Adrenal Hyperplasia**, which drug is administed to the mother to prevent masculinisation of a female foetus?

Dexamethasone

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

p53 regulates apoptosis and cell cycle arrest

Bloom syndrome, a disease resulting in short stature, cancers and rash from sun exposure is a result of mutation in genes encoding what proteins?

DNA Helicase

The Prader-Willi gene on chromosome 15 is active, or inactive in paternal chromosomes?

Active

Cancers that may be **intergenerational** are cancers of **somatic cells** or **germline cells**?

Germline cells

Methylation upregulates or downregulates gene expression?

downregulates

What is a **Carcinoma**?

Tumors of epithelial tissues

Sickle Cell Anaemia: Autosomal Dominant, or Recessive?

Autosomal Recessive

Antisense RNA, miRNA and siRNA perform what functions?

Downregulation and suppresion of gene expression

How does the process of sequential DNA replication made more time-efficient, given the extraordinary length of DNA molecules?

Multiple *Ori* ## Footnote *Allows parallel dna replication processes along the same chromosome*

In **mitochondrial replacement therapy**, in which method is repair carried out after fertilisation? Pronuclear Transfer Maternal Spindle Transfer

Pronuclear Transfer

Polymerase works in which direction - 5'⇒3' or 3'⇒5'?

5'⇒3'

Familial Isolated Growth Hormone Deficiency (IGHD) is an example of complex genetic transmission, why?

There can be both *recessive* and *dominant* IGHD

Genes that are considered **syntetic** are:

Found on the same chromosome

Resistance gene transfer that is achieved by transferring new DNA via a protein tube between adjacent bacteria is an example of: ## Footnote * Conjugation* * Transduction* * Transformation?*

Conjugation

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

which X-linked recessive disease more common in African American males and linked with protection against malaria results in breakdown of red blood cells?

G6PD deficiency

A mutation in a trinucleotide encoding the translation of alanine results in no change to the amino acid sequence, was this a misense or a silent mutation?

Silent Mutation

*Patient with adrenocortical Carcinoma or Choroid Plexus Tumour, Irrespective of family history* is one diagnostic criteria for what syndrome?

Li-Fraumeni Syndrome

Amplification of DNA for cloning or analysis is done by a process of what name?

PCR ## Footnote *Polymerase Chain Reaction*

What type of hypothalamic neurons are lost in **Narcolepsy**?

Hypocretin (Orexin) producing neurons

Final Flashcards

(305 cards)