Back to Topic 4.3 — Mutations and gene editing
4.3.4Biology SL12 flashcards

Chromosome mutations & non-disjunction

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Card 1 of 124.3.4
4.3.4
Question

What is a chromosome mutation?

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All 12 Flashcards — Chromosome mutations & non-disjunction

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Card 1definition

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.

Card 2definition

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.

Card 3concept

Question

What does the word 'non-disjunction' literally mean?

Answer

'Disjunction' = separating, so **non-disjunction = not separating**.

Card 4concept

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)**.

Card 5definition

Question

Define aneuploidy.

Answer

Having an **abnormal number of chromosomes** — one too many or one too few — rather than a whole extra set.

Card 6definition

Question

Define trisomy.

Answer

Having **three copies** of a particular chromosome instead of the normal two.

Card 7concept

Question

Which chromosome is present in three copies in Down syndrome?

Answer

**Chromosome 21** — three copies is called **trisomy 21**.

Card 8concept

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**.

Card 9concept

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.

Card 10concept

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.

Card 11concept

Question

How does Down-syndrome incidence change with maternal age?

Answer

It **increases with age**, slowly at first and then **steeply** at older ages.

Card 12concept

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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