, 4
2 A rare disease is defined as a disease that affects less than 0.05% of a population.
(a) NGLY1 deficiency is a rare disease caused by mutation in the NGLY1 gene.
People with NGLY1 deficiency produce faulty N-glycanase 1, which is an enzyme that removes
abnormal proteins.
Symptoms of NGLY1 deficiency include weak muscle tone and delayed development of speech
and motor skills.
Several different mutations in the NGLY1 gene are known to cause NGLY1 deficiency. Two of
these mutations are:
• a substitution mutation of cytosine (C) to thymine (T) that causes relatively mild symptoms
• a deletion mutation of C that causes severe symptoms.
Suggest why the deletion mutation of C causes more severe symptoms than the substitution
mutation.
(b) A student researches NGLY1 deficiency and obtains secondary data for the prevalence of the
disease.
The student discovers that:
• NGLY1 deficiency is a recessive genetic disease
• 75 people in the world had been diagnosed with NGLY1 deficiency in 2022
• the world population in 2022 was 7 880 000 000.
(i) Using the secondary data obtained by the student and the Hardy–Weinberg principle, estimate
the number of people in the world that were heterozygous carriers of a mutant NGLY1 allele in
2022.
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