Point Process Cause Effect Chromosomal Process Cause Effect

Mutation Mutation that - UV lights + Disease caused Mutation - Defective; Disease caused by
Mutation that alters, adds or higher by point Affects large uncontrolle chromosome
alters, adds or removes few frequency mutation: section of a d cell mutations
removes few nucleotides lights can Cystic Fibrosis: chromosome, division - Down
nucleotides from a DNA ionise Loss of an and usually - Exposure to Syndrome:
from a DNA sequence electrons amino acid occur during radiation related to
sequence causes meiosis - Instability in physical
incorrectly chemical growth,
folded protein; process that intellectual
lungs are control disability,
unable to clear biochemical caused by
mucus reactions extra copy of
chromosom
e 21
- Turner
Syndrome:
where only
one X
chromosom
e is in
females
Point Results in a - Mistake in No effect on Chromosome replication of a Search up cause Increases gene
Mutation: new codon DNA the organism Mutation: section of a expression
Silent that codes for replication as it still codes Duplication chromosome, results
Mutation the same for the same Mutation: in multiple copies of
amino acid amino acid the same gene
Point Causes an Depends upon Chromosome Involves a section of Search up cause
Mutation: amino acid the protein mutation the sequence
Misense replacement produced by Inversion breaking off
mutation the mutation – Mutation: chromosome,
hence can be rotating 180 degrees
harmful or not reattaching to same
 chromosome
Point Results in the Terminates Chromosome Large part of Search up cause Can cause some
Mutation: creation of a protein Mutation: chromosome breaks gametes to have two
Nonsense stop codon ( ie synthesis Insertion off and attaches to a copies of the same
Mutation a codon that Depending mutation different gene, whilst other
causes signals upon the chromosome gametes may not
translation to codon, at what have the gene
stop) point it
terminates
protein
synthesis
determines
harmful/non-
harmful effect

Point Two types: Can severely Chromosome A whole Search up cause Typically interrupt
Mutation: Nucoetide disrupt protein Mutation: chromosome or a gene regulation,
Frameshift insertion: synthesis, as Translocation segment of a cause of some forms
Mutation: pushes the the different Mutations chromosome of cancer
rest of the types of becomes attached to
nucleotides codons that or exchanged with
back one or are being another
two places or coded are chromosome/section
forward, and affected
hence the
codon will be
shifted by one
nucleotide,
from an
insertion point
onward
Nucleotide
deletion:
 removes one
or two
nucleotides
pulls all
following
nucleotides by
one/two
places

Key things to remember:

- It can affect both somatic cells and germline cells

- If it affects germline cells it can pass onto offspring ie be heritable
- Remember, these muations have the ability to make on

Chromosomal Abnormalities

Aneuploidy

- Prescence of an abnormal number of a particular chromosome

- Usually caused by when 2 homologous chromosomes do not separate during meiosis → non-disjunction
- Can lead to miscarriage of embryos
- Diseases caused by aneuploidy: turner syndrome

Polyploidy

- Where cells contain more than two of every chromosome in a set

- Polyploid zygotes don’t survive, but somatic cells can be poyploid

Non-Disjunction:

Anaphase I
Anaphase II

Unequal Crossing Over

- Crossing over of non-sister chromatids can cause chromosomal abnormalities due to unequal exchange
Examples of Diseases caused by Mutations: Chromosomal and Point Mutations
Trisomy 21* chromosomal
Features - Increased risk of medical issues
- Look at symptoms
Description o However it can also be
of mosaic down syndrome
chromosoma where some cells have 2
l abnormality copies of chromosome 21 or
where some have 3 copies of
chromosome 21
o Translocation occurs where
one part or all parts of the
chromosome attatches onto
another chromosome
Cause of o Non-disjunction of
abnormality chromosome 21
Effect of - - wide set eyes, flatted face, spinal
abnormality weakness, heart defects, reduced
life expectancy
- As a result, they often need physical
therapy, speech therapy and
Klinefelter Syndrome *chromosomal
- Affects sexual development due to
chromosome arrangement ie XXY
- Testes do not fully develop, and hormone
testosterone is lower than average
- XXY males are unable to make sperm
- May have proportiomally longer arms and
legs, can cause small testes and
development of brest growth
- An extra copy of the X chromosome in
each cell
- Or an extra copy of the X chromosome in
some cells (mosaic Klinefelter syndrome)
- Non-disjunction
- Infertility
- Improper growth
- Lack of testosterone production
Cystic Fibrosis (point mutation)
- Genetic cause of cystic
fibrosis: a deletion of
three nucleotides that
causes the loss of amino
acid phenylamine
- Point mutation ie deletion of
nucleotides
- Effects of cystic fibrosis:
persistent cough, exercise
intolerance, repeated lung
infections, poor weight
gain or growth
occupational therapy for eg to
develop