CMP

Question 0

What is a mosaic?

Answer 0

Presence of two or more populations of cells with different genotype in one individual, developed from a single fertilised egg.

Question 1

What is a chimera?

Answer 1

A single organism composed of genetically distinct cells (cells will have different genome depending on where they are in the body), result of a merger between multiple fertilised eggs.

Question 2

What’s the difference between FISH and FISH of a reciprocal translocation? How are the results different?

Answer 2

FISH is the hybridisation of a dsDNA with fluorescent dsDNA probes. Will highlight a specific region of the chromosome.
A whole chromosome ‘paint’ will be used to identify whole chromosomes. Will highlight if parts of chromosomes have translocated or swapped (reciprocal translocation)

Question 3

What is non-disjunction? What condition is it famously associated with.

Answer 3

During metaphase, 2 chromosomes will go to one daughter gamete, and none will go to the other daughter gamete. Down’s syndrome (21)

Question 4

What is a robertsonian translocation?

Answer 4

Long arms fuse of 2 chromosomes with very short p-arms

Question 5

What is a reciprocal translocation?

Answer 5

Material exchanged between non-homolygous chromosomes

Question 6

Give three examples of diseases caused by autosomal dominant monogenic disorders.

Answer 6

Huntingtons, achondroplasia and hereditaryretinoblastoma

Question 7

Give three examples of autosomal recessive diseases.

Answer 7

Cystic fibrosis, sickle cell anaemia, thalassaemia

Question 8

What protein is produced from the CF gene? What are the consequences of mutation of this gene?

Answer 8

CFTR - cystic fibrosis transmembrane conductance regulator. Inserts into membrane and controls Cl leaving cell, water would follow. Mutated so Cl doesn’t leave and water doesn’t follow (sticky mucus)

Question 9

What is a haplotype?

Answer 9

A collection of DNA that is known to be inherited together

Question 10

How is Haemoglobin assembled?

Answer 10

2 beta chains from chromosome 11 and 2 alpha chains from chromosome 16

Question 11

What loci is the most important found to be associated with Type 1 Diabetes?

Answer 11

6p21

Question 12

What protein was first looked at in relation to research into Alzheimer’s disease? What chromosome is the gene found on?

Answer 12

Amyloid Precusor protein (APP) on chromosome 21

Question 13

A mutation in which gene will almost definitely give you bowel cancer?

Answer 13

Adenomatous Polyposis Coli

Question 14

What mutations do B (a) P and DMBA cause to what gene?

Answer 14

Target H-ras, B(a)P binds to Guanine at codon 12, and swaps it to Tyrosine, changing amino acid of protein. DMBA binds to Alanine at codon 61 and swaps it to tyrosine, altering an amino acid in the protein.

Question 15

Name a tumour initiator and a tumour promotor, what’s the difference between the two?

Answer 15

Initiator = DMBA or B(a)P
Promotor =TPA
initiator is mutagenic and irreversible. Promoter generates inflammation, alters gene expression and inhibits metabolic cooperation

Question 16

Which chromosomes would you find N-Ras, H-Ras and K-Ras?

Answer 16

N-Ras = chromosome 1
H-Ras = chromosome 11 
K-Ras = chromosome 12