Point Mutations
Frameshift Mutations
Chromosome Mutations
Genetic Diseases
Mutations & Variation
100

What type of mutation occurs when one nitrogenous base is replaced by another?

What is a substitution (point mutation)?

100

What happens to the reading frame when a base is inserted or deleted?


What is the reading frame shifts, changing all codons after the mutation?

100

Which chromosome mutation results in a section being lost?

What is a deletion?

100

Which chromosome disorder is caused by Trisomy 21?

What is Down syndrome?

100

What is the ultimate source of new alleles in a population?

What are mutations?

200

Which type of point mutation changes one amino acid in the protein?

What is a missense mutation?

200

Name the two types of frameshift mutations.

What are insertions and deletions?

200

Which mutation causes part of a chromosome to be copied twice?

What is a duplication?

200

Turner syndrome results from what chromosome abnormality?

What is monosomy X (missing one X chromosome)?

200

Name one cause of mutations. 

What is DNA replication errors, cell division errors, or mutagens?

300

Which type of point mutation creates a stop codon?

What is a nonsense mutation?

300

Why do frameshift mutations usually have a greater effect than point mutations?

What is they alter every codon after the mutation, changing many amino acids?

300

Which mutation occurs when a chromosome segment reattaches backwards?

What is an inversion?

300

Which genetic disease is common in sub-Saharan Africa because it provides protection against malaria?

What is sickle-cell anaemia (or sickle-cell trait)?

300

Different genotypes produce different what?

What are phenotypes?

400

Which type of point mutation has no effect on the amino acid sequence?

What is a silent mutation?

400

During which cellular process are frameshift mutations most likely introduced?

What is DNA replication?

400

Which mutation occurs when part of one chromosome attaches to another chromosome?

What is a translocation?

400

Which genetic disease is more common in Mediterranean populations and also provides malaria resistance in heterozygotes?

What is thalassaemia?

400

Natural selection acts directly on an organism's genotype or phenotype?

What is the phenotype?

500

Albinism is caused by what type of mutation, and what protein is affected?

What is a nonsense point mutation that prevents production of melanin?

500

Explain why adding one nucleotide changes the entire protein sequence.

What is because codons are read in groups of three, so one insertion changes every codon after it?

500

What error during meiosis can lead to trisomy or monosomy?

What is non-disjunction?

500

Why is the sickle-cell allele maintained in some populations despite causing disease?

What is heterozygous individuals have increased resistance to malaria, increasing survival and reproduction?

500

Explain how a favourable mutation can become more common in a population.

What is individuals with the favourable phenotype survive and reproduce more successfully, increasing the frequency of that allele over generations?