Chromosome mutations & non-disjunction
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All 12 Flashcards — Chromosome mutations & non-disjunction
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Question
What is a chromosome mutation?
Answer
A change in the **number (or structure) of whole chromosomes**, rather than a change to the DNA bases of one gene.
Question
Define non-disjunction.
Answer
The **failure of chromosomes (meiosis I) or sister chromatids (meiosis II) to separate** during meiosis, so both copies end up in the same gamete.
Question
What does the word 'non-disjunction' literally mean?
Answer
'Disjunction' = separating, so **non-disjunction = not separating**.
Question
What kind of gamete does non-disjunction produce?
Answer
One gamete with an **extra chromosome (n + 1)** and another **missing that chromosome (n − 1)**.
Question
Define aneuploidy.
Answer
Having an **abnormal number of chromosomes** — one too many or one too few — rather than a whole extra set.
Question
Define trisomy.
Answer
Having **three copies** of a particular chromosome instead of the normal two.
Question
Which chromosome is present in three copies in Down syndrome?
Answer
**Chromosome 21** — three copies is called **trisomy 21**.
Question
Outline how non-disjunction causes Down syndrome.
Answer
Chromosome 21 **fails to separate** in meiosis → a gamete gets an **extra copy** → **fertilisation** adds a third copy → **trisomy 21**.
Question
Why is the offspring affected in every cell?
Answer
The whole body grows from the single zygote by **mitosis**, so **every cell** inherits the extra chromosome.
Question
How does a chromosome mutation differ from a gene mutation?
Answer
A gene mutation changes **a few DNA bases** in one gene; a chromosome mutation adds or loses a **whole chromosome** and can be seen on a karyogram.
Question
How does Down-syndrome incidence change with maternal age?
Answer
It **increases with age**, slowly at first and then **steeply** at older ages.
Question
Can non-disjunction be seen on a karyogram?
Answer
**Yes** — an extra or missing whole chromosome shows up as an extra (or absent) band, unlike a tiny gene mutation.
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Topic 4.3 hub
Mutations and gene editing
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