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Science Reviewer Mutation

Mutations can occur through mistakes in DNA replication or through exposure to mutagens and can result in changes to the DNA sequence. There are two types of mutations: gene mutations, which alter the sequence of individual genes, and chromosomal mutations, which involve changes at the chromosomal level like duplications, deletions, inversions, or translocations. Several genetic disorders are caused by chromosomal mutations, such as Down Syndrome from an extra copy of chromosome 21, Edward's Syndrome from trisomy 18, and Cri du Chat syndrome from a deletion on chromosome 5.

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199 views4 pages

Science Reviewer Mutation

Mutations can occur through mistakes in DNA replication or through exposure to mutagens and can result in changes to the DNA sequence. There are two types of mutations: gene mutations, which alter the sequence of individual genes, and chromosomal mutations, which involve changes at the chromosomal level like duplications, deletions, inversions, or translocations. Several genetic disorders are caused by chromosomal mutations, such as Down Syndrome from an extra copy of chromosome 21, Edward's Syndrome from trisomy 18, and Cri du Chat syndrome from a deletion on chromosome 5.

Uploaded by

Talao, Angelie Rei S.
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Mutation

 Mutation – a change in the base sequence of DNA.


 Mutagens – factors that induce mutations; toxic chemicals, harmful radiation, etc.
- sometimes, mistakes occur in DNA replication, mitosis, and meiosis. All of these can alter the
DNA sequence and length.
- can occur in two different types of cells but mutations only in sex cells are heritable.
- may occur during replication.

Two Types of Mutations in Gamete Cells


A. Gene Mutation – a permanent change in DNA sequence that makes up a gene.
 Substitution – at least one of the bases in the DNA strand is changed.

 Insertion – at least one base in the DNA strand is added.


 Deletion – at least one base in the DNA strand is deleted.

- substitution, also referred to as point mutation, poses a lesser effect since most of the time,
only one amino acid may be altered.
- insertion and deletion pose a more serious effect since they will cause a frameshift in a
segment of the gene, altering more types of amino acids which will greatly affect the type of
protein that will be synthesized.
Sickle Cell Anemia

B. Chromosomal Mutation – occurs at the chromosomal level that may occur during the
cell cycle and meiosis; results in gene deletion, duplication, or rearrangement.
 Duplication – extra copies of genes are generated in a chromosome.
 Deletion – some of the genetic materials from the chromosome breaks off.
 Inversion – when a broken chromosome segment gets reversed and put back on the
chromosome.
 Translocation – when a fragment from one chromosome breaks off and attaches to
another chromosome.

Duplication Deletion Inversion Translocation


Some Genetic Disorders
 Down’s Syndrome – caused by an extra copy of chromosome 21 (trisomy 21); decreased
muscle tone, stockier built, slanting eyes, and mild to moderate retardation.
 Edward’s Syndrome – second most common trisomy (trisomy 18); mental and motor
retardation, numerous congenital anomalies, and clenched hands with overlapping
fingers.
 Cri Du Chat – caused by the deletion of a part of the short arm of chromosome 5; makes
high-pitched cries that sound like a cat, small head and jaw, and moderately to severely
mentally retarded.
 Klinefelter’s Syndrome – sex chromosome aneuploidy XXY; sterile, longer arms and legs,
taller, often shy and quiet, and has a higher incidence of speech delay.
 Turner’s Syndrome – sex chromosome aneuploidy X; underdeveloped female sexual
characteristics, often has a short stature, low hairline, and “caved-in” appearance in the
chest.

Down’s Syndrome Edward’s Syndrome Cri Du Chat

Klinefelter’s Syndrome Turner’s Syndrome


Medicine
Human Karyotyping
 Karyotype – an image of the full set of chromosomes of an individual that displays the
normal number, size, and shape.

 Amniocentesis – examination of cells from uterine fluids or sampling of placental


membranes; human karyotyping may be done through this.

Genetic Engineering

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