QuestionSBA
QuestionChoice
CFTR stands for cystic fibrosis transmembrane conductance regulator. This allows chlorine and salt to leave the cell so water can follow and properly hydrate the cellular surface.

When mutated, cystic fibrosis occurs. Salt cannot leave the cells and the mucus on cells becomes thick and sticky causing infertility in men and recurrent chest infections in men and women.
10005974
d
CFTR gene
QuestionChoice
Dystrophin is a protein within muscle that plays a crucial role in the structure and function of the muscle.

The mutation in this gene leads to a faulty protein and causes changes in the muscle fibres leading to scarring and muscle dysfunction.

Over time, this leads to muscle weakening and increasing disability.
10005975
e
Dystrophin gene
QuestionChoice
Ankylosing Spondylitis (AS) has a strong family history and is greatly associated with HLA B27.

75-92% of patients with AS have this gene. Among those in the population who have the gene, 1-2% have AS.

Other spondyloarthropathies that are associated with HLA B27 include reactive arthritis and enteropathic arthritis that is associated with IBD.
10005971
a
HLA B27
QuestionChoice
These have been most consistently associated with Systemic Lupus Erythematosus (SLE).
10005973
c
HLA DR2 and 3
QuestionChoice
These genes are associated with the development of coeliac disease.
10005972
b
HLA DQ8 and 2
Concept
Chapter
2693
3911
ankylosing spondylitis
Topic
146
Rheumatology
13741
21 year old male presents to the GP with prolonged morning stiffness over 30 minutes that also worsens in the evening.

He says he has taken up running and that seems to relieve the pain.

He says he is really struggling with fatigue and is finding it difficult to carry on with his office-based job.

He is subsequently diagnosed with ankylosing spondylitis.

What gene is most associated with this?
a