2.3 CF – a rare disease with a well understood pathogenesis

Question 1

autosomal

Answer 1

Associated with chromosomes that are not sex chromosomes (X and Y).

Question 2

Autosomal recessive:

Answer 2

You need two faulty copies of a gene, one from each parent, to show the disease, like needing two flat tires for your bike to break down.

Question 3

anion channel

Answer 3

Tiny doorways in your cell walls, like gates for negatively charged molecules (anions) to flow in and out, keeping your cell’s electrical balance and chemical operations humming.

Question 4

epithelial cells in CF

Answer 4

Lining your airways and glands, these cells normally move water like bouncers at a water-park, but a faulty protein jams the door, leading to thick, sticky mucus causing problems in CF.

Question 5

central dogma of molecular biology

Answer 5

DNA → RNA → Protein

DNA (Deoxyribonucleic acid): Blueprint of life, encoding genetic information as a sequence of nucleotide bases.
RNA (Ribonucleic acid): Transitory messenger, copying specific DNA segments (genes) and carrying the information to the ribosomes.
Protein: Workhorses of the cell, built from amino acids based on the instructions encoded in RNA.

Question 6

Which nucleic acid is a major component of the ribosome?

Answer 6

Ribosomal RNAs form a major component of the ribosome

Question 7

Why would the size of nucleoli be related to cellular protein production?

Answer 7

Bigger nucleoli = more ribosome factories = more protein production, like having extra bakeries to make more cakes!

Question 8

Chromatin:

Answer 8

DNA’s tightly-knit partner, orchestrating gene access and expression through controlled compaction and modification.

Question 9

histones

Answer 9

Protein spools around which DNA tightly winds, forming the structural and regulatory core of chromatin.

Question 10

Heterochromatin:

Answer 10

Tightly compacted DNA regions in chromatin, less readily accessible for gene expression.

Question 10

Euchromatin:

Answer 10

Open and accessible DNA regions in chromatin, actively engaged in gene expression.