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The document discusses mutations, which are changes in the DNA sequence caused by various factors, including mutagens. It categorizes mutations into germline and somatic mutations, detailing types such as point mutations and frameshift mutations, as well as genetic disorders like Down's syndrome and Cri du chat syndrome. Additionally, it covers human karyotyping and genetic engineering, highlighting the applications of recombinant DNA.

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4 views

Science Visuals

The document discusses mutations, which are changes in the DNA sequence caused by various factors, including mutagens. It categorizes mutations into germline and somatic mutations, detailing types such as point mutations and frameshift mutations, as well as genetic disorders like Down's syndrome and Cri du chat syndrome. Additionally, it covers human karyotyping and genetic engineering, highlighting the applications of recombinant DNA.

Uploaded by

lyanjoyrosero
Copyright
© © All Rights Reserved
Available Formats
Download as PDF, TXT or read online on Scribd
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VISUALS

Mutation - A change in the DNA sequence of an organism. These changes can occur due to
various factors such as environmental influences, errors during DNA replication, or exposure
to mutagens
●​ Mutagens - Mutagens are the form of toxic chemicals and harmful radiations.
Examples of mutagens include tobacco products, radioactive substances, x-rays,
ultraviolet radiation, processed foods and infectious agents.

Two different types of cells;

Reproductive cells/Germline mutation — it is changing the sequence of nucleotides


within a gene in a sperm or an egg cell as mutations in reproductive cells, altering the
nucleotide sequence within a gene in sperm or egg cells, can lead to heritable genetic
changes.
●​ gene mutation — It is a permanent change or alterations in the DNA sequence that
makes up a gene
●​ chromosomal mutation — occurs at the chromosome level resulting in gene deletion,
translocation and inversion

Body cells/somatic mutations — somatic mutations occur in cells found elsewhere in an


organism's body. Such mutations are passed to daughter cells during the process of mitosis
but they are not passed to offspring conceived via sexual reproduction.

Two types of mutations:

Point mutation — also known as substitution mutation is the type mutation in DNA or RNA
wherein one single nucleotide base is deleted, added or altered
●​ Nonsense mutation — formation of a stop codon
●​ Missense mutation — does not stop from a codon
●​ Silent mutation — altered but the same

frameshift mutation, — also known as chromosomal mutation in a gene, refers to the


insertion or deletion of nucleotide bases in numbers that are not multiples of three.
●​ Deletion - when a base is deleted from the nitrogen base sequence
●​ Duplication - occurs when a part of chromosome is copied (duplicated) too many
times
●​ Insertion - happens when the addition of one or more nucleotide base parts gets into
a DNA sequence
●​ Inversion - when a segment of a chromosome is reversed end to end
●​ Translocation - when segments of two chromosomes are exchanged

Genetic Disorders;

Cri du chat Syndrome — it is caused by the deletion of part of the short arm of
chromosome 5. a rare genetic disorder caused by missing pieces on a particular
chromosome.The characteristics of a newborn with cri du chat syndrome include a
high-pitched cry, a small head and a flattened bridge of the nose.

Down’s syndrome – usually caused by an extra copy of chromosome 21 and is also known
as trisomy 21, — a condition in which a baby is born with an extra chromosome number 21

Edward’s syndrome – , second most common trisomy after down’s syndrome a trisomy of
chromosome 18, it is a chromosomal condition associated with abnormalities in many parts
of the body.

Jacobsen syndrome – also called terminal 11q deletion disorder is a rare genetic disorder
caused by deletions in the long arm of chromosome 11

Klinefelter’s syndrome (XXY) – usually sterile and tend to have longer arms and legs and
to be taller than their peers

Turner's syndrome (X instead of XX or XY) – female sexual characteristics are present


but underdeveloped. It's also a condition that affects only females, resulting when one of the
X chromosomes are missing or partially missing

Human Karyotyping;

-​ is the process of pairing and ordering all the chromosomes of an organism, thus
providing a genome-wide snapshot of an individual's chromosomes.
-​ karyotype – an image of the full set of chromosomes of an individual that displays the
normal number, size, and shape

Genetic Engineering:
-​ also called genetic modification is a process that uses laboratory-based technologies
to alter the DNA makeup of an organism
-​ recombinant DNA – when DNA from two different species are joined together

Applications for recombinant DNA:


-​ Medical applications
-​ DNa fingerprinting
-​ Creation of genetically and modified crops
-​ Bacteria that can clean oil spills

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