Pearson-like Pancytopenia (PLP) is a rare, recessive, inherited condition.
PLP is caused by a mutation in any one of several genes involved in mitochondrial translation.
In 75%75\%75% of people with PLP, these mutations occur in nuclear DNA. In 25%25\%25% of people with PLP, these mutations occur in mitochondrial DNA (mtDNA).
15%15\%15% of the nuclear DNA mutations that cause PLP occur in the MRPL12 gene. A mutated MRPL12 gene codes for a shorter polypeptide than a non-mutated MRPL12 gene.
Name one type of MRPL12 gene mutation and explain how this mutation could lead to the production of a shorter polypeptide.
Globally, the frequency of PLP is 1 in 60,000. In a specific isolated valley community, the population is 80,000 and the frequency of PLP is 1 in 1,000.
Estimate the number of people in this valley community with PLP caused by a mutation in the MRPL12 gene. Show your working.
The frequency of PLP is higher in this valley community than globally. Suggest and explain one reason why.
