Xprin Week 1-4

Front 1

Risk of chromosomal imbalance with Trisomy 13, 18, 21

Back 1

1-2% if below 35 yrs
Age related risk above 35 yrs

Front 2

Risk of chromosomal imbalance with Robertsonian t(14:21)

Back 2

10% if female was the carrier
2% if male was the carrier

Front 3

Risk of chromosomal imbalance with Robertsonian t(21:21)

Back 3

100%

Front 4

Risk of chromosomal imbalance with reciprocal translocations

Back 4

Up to 30-40%

Front 5

Risk of chromosomal imbalance with Inversions

Back 5

Up to 5-10%

Front 6

Indications of Karyotyping (6)

Back 6

1. Problems of early grwth and development
2. Stillbirth and neonatal death
3. Infertility or recurrent spontaneous abortions
4. Family history of chromosome problem
5. Turmours
6. Advanced maternal age

Front 7

Acrocentric Chromosomes

Back 7

13, 14, 15, 21, 22

Front 8

Constitutive heterochromatins (3)

Back 8

1. Centromeres
2. q arm of Y chromosome
3 P arm of acrocentric chromosomes

Front 9

Frequency of Chromosome anomalies in newborns

Back 9

1/200

Front 10

Example of Individual Genome Variation (4)

Back 10

1. Single Nucleotide Polymorphism
2. Structural variation
3. Insertion/deletion Polymorphism
4. Copy-number variation

Front 11

Examples of Human DNA organization (4)

Back 11

1. Highly repetitive DNA sequence
2. Moderately repetitive elements
3. Single Copy Genes
4. Mitochondrial DNA

Front 12

Types of R groups on amino acids (5)

Back 12

Aliphatic
Non-polar
Aromatic
Polar
Charged

Front 13

Effects of Mutations (5)

Back 13

1. Deletion of gene
2. Duplication of gene
3. Frameshift & nonsense mutations
4. In-frame mutation & misssense mutation
5. Triplet repeat expansion

Front 14

What is nonsense mutations

Back 14

A point mutation that results in a premature stop codon.

Front 15

What is missense mutations

Back 15

A point mutation in which a single nucleotide is changed, resulting in a codon that codes for a different amino acid

Front 16

What are the triplet repeat expansions? List 3 examples and whats wrong.

Back 16

1. Fragile X mental retardation syndrome (Expansion into 5' flanking)
2. Huntington's disease (Expansion in to coding region)
3. Myotonic Dystrophy (Expansion in upstream regulatory region)

Front 17

Three example of missense mutation.

Back 17

1. Base pair substitution results in an amino acid change
2. Base pair substitution affects transcription (TATA box)
3. Base pair substitution results in abnormal splicing

Front 18

What is a Haplotype

Back 18

A group of alleles from closely linked loci that are inherited as a unit

Front 19

Multifactoral Inheritance are responsible for? (3)

Back 19

1. Most normal phenotypic differences among individuals
2. Many congenital anomalies
3. Common diseases of adulthood

Front 20

What is liability?

Back 20

All of the factors (genetic and environmental) which influence presence or absence of a genetic disorder or disease

Front 21

Definition of Mutation and Polymorphism

Back 21

Mutation: A permanent heritable chance in the sequence of the genomic DNA
Polymorphism: A type of mutation which tends to be more common and the sequence change is benign

Front 22

Factors affecting recurrent risk for multifactorial inheritance disease (7)

Back 22

1. Degree of relationship
2. Sex of fetus in question
3. Sex of affected relative
4. Severity of disease
5. Number of relatives affected
6. Consanguinous unions
7. Population in question

Front 23

How to calculate recurrent risk if number is unknown

Back 23

Square root of the disease population frequency

Front 24

Recurrent risk of cleft lip if their sibling or children was affected?

Back 24

3 - 4% for both

Front 25

Recurrent risk for cleft lip if 1st/2nd/3rd degree relatives were affected?

Back 25

1: 2 - 4%
2: 1%
3: 0.5%

Front 26

Recurrence risk of cleft lip if one or two 1st degree relative was affected?

Back 26

1: 2 - 4%
2: 10%

Front 27

Significant of the Sternal Angle (6)

Back 27

1. Marking the position of Rib II
2. Separates superior and inferior mediastinum. Superior limit of pericardium
3. Beginning and end of aortic arch
4. Superior vena cava penetrates the pericardium to enter the heart
5. Bifrication of Trachea
6. Superior limit of pulmonary trunk

Front 28

What is Kartageners Syndrome and what are the symptoms (4)?

Back 28

Autosomal mutation with the loss of dynein arms on axoneme double microtubules.
Symptoms:
1. Recurrent upper respiratory infection.
2. Male infertility
3. Ectopic Pregnancies
4. Situs inversus

Front 29

What is Zellweger syndrome?

Back 29

Empty peroxisomes caused by the failure to import proteins into the peroxisome. Causes severe brain, liver and kidney abnormalities. Die soon after birth

Front 30

What is Tay-Sachs disease

Back 30

A lysosomal storage disease. marked by a deficiency of gangliosidase (Lysosomal enzyme). It leads to a progressive, abnormal increase in residual bodies in the brain and nervous system.

Front 31

Where does SH get oxidized? Where does proteins get glycosylated?

Back 31

In the ER, non-cytosolic side.

Front 32

What happens to proteins as they move through the golgi

Back 32

They are first sorted, then glycoproteins are modified and then sorted again.

Front 33

Which amino acids does glycosylation happen?

Back 33

O-linked: Serine/theonine
N-Linked: Asparagine

Front 34

Why is Glycosylation important for glycoproteins? (4)

Back 34

1. Protein processing (Sorting)
2. Folding
3. Half-life
4. Protein function (Cell-cell interaction, adhesion, identification)

Front 35

What is the function of SER? (3)

Back 35

1. Steroid hormone synthesis
2. Detoxification of alcohol, drugs and exogenous compounds.

Front 36

Function of Peroxisome? (4)

Back 36

1. O2 consumption
2. Alcohol degradation
3. Detoxification of foreign compounds
4. H2O2 regulation.

Front 37

How does Mycobacterium tuberculosis evade lysosomal degradation?

Back 37

Blocks phasosome-lysosome fusion and survives in macrophage phagosomes.

Front 38

How does Leishmania evade lysosomal degradation?

Back 38

Cell surface glycoproteins are not degraded and may inactivate lysosomal enzymes.

Front 39

How does Trypanosomes evade lysosomal degradation?

Back 39

Escape from phagosome and survive in cytoplasm.

Front 40

How does Legionella pneumophila evade lysosomal degradation?

Back 40

Cause endosome to fuse with ER vesicles, and acquire ER markers.

Front 41

What are the 3 major cytoskeletal components?

Back 41

1. Microfilaments
2. Intermediate Filaments
3. Microtubules

Front 42

What are the function of Microfilaments? (4)

Back 42

1. Cell adhesion
2. Generation of Contractile Force
3. Cell shape
4. Cell migration

Front 43

What are the function of Intermediate Filaments? (2)

Back 43

1. Convey tensile strength within cells and across tissues
2. Architectural scaffolds to maintain cell and nuclear structure

Front 44

What are the function of Microtubules?

Back 44

Allow motors to move along tubules.

Front 45

What are the cell-cell junctions? (4)

Back 45

1. Adherens Junctions
2. Tight Junctions
3. Desmosomes
4. Gap Junctions

Front 46

What are the cell-extracellular matrix junctions? (2)

Back 46

1. Hemidesmosomes
2. Focal Adhesions

Front 47

Example of a Cell Junction Complex.

Back 47

1. Cell Surface receptor of Cadherins
2. Linker Protein of Catenins
3. Cytoskeletal Elements of Actin

Front 48

What is a Focal Adhesion Junction?

Back 48

Heterophilic. Cytoskeletal elements are actin; linkers and structural components are enzymes, Dynamic junctions which are critical for cell migration (Repeatedly adhere and release from ECM).

Front 49

What are the cytoskeletal elements of hemidesmosomes composed of?

Back 49

Intermediate filaments.