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Mutations: Understanding Genetic Changes

This document discusses different types of mutations that can occur in genetic material: 1. Gene mutations include point mutations like substitutions, insertions, and deletions that change single nucleotide pairs, as well as frameshift mutations. 2. Chromosomal mutations involve changes in larger structures like deletions, duplications, inversions, and translocations of whole chromosomes or parts of chromosomes. 3. Examples are given of genetic disorders caused by different mutation types, such as sickle cell anemia from a substitution, Huntington's disease from an insertion, and cystic fibrosis from a deletion. Chromosomal conditions like Down syndrome, Edward syndrome, Turner syndrome, and Cri-du-chat syndrome are also summarized.

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7 views41 pages

Mutations: Understanding Genetic Changes

This document discusses different types of mutations that can occur in genetic material: 1. Gene mutations include point mutations like substitutions, insertions, and deletions that change single nucleotide pairs, as well as frameshift mutations. 2. Chromosomal mutations involve changes in larger structures like deletions, duplications, inversions, and translocations of whole chromosomes or parts of chromosomes. 3. Examples are given of genetic disorders caused by different mutation types, such as sickle cell anemia from a substitution, Huntington's disease from an insertion, and cystic fibrosis from a deletion. Chromosomal conditions like Down syndrome, Edward syndrome, Turner syndrome, and Cri-du-chat syndrome are also summarized.

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onli.javu
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Mutation

 Ang konsepto ng paglilihi, gaya ng


pasma at usog, na bahagi na ng
kulturang Pinoy, ay mga paniniwalang
mahirap mabigyan ng katumbas sa
kanluraning kaisipan.

Ang Konsepto  At kung hindi maibigay ang


ng Paglilihi kagustuhan ng naglilihi, maaari daw
maapektuhan ang sanggol sa
sinapupunan. Bukod pa rito, ang
paglilihi din daw ay maaaring makita sa
anyo ng bagong silang na sanggol.
 Kung ang sanggol daw ay maputi, sinasabing pinaglihi ito sa
singkamas; kung maitim, pinaglihi naman sa duhat; kung ang
sanggol ay balbon, pinaglihi naman daw sa balot.

 Ngunit ang konseptong ito ba ay may sapat na basehan? Tunay nga


bang may kaugnayan ang kagustuhan sa isang partikular na
pagkain sa magiging anyo ng sanggol? Sa ngayon, walangsapat na
pag-aaral ang makapagpapatibay sa paniniwalang ito.
 Myth #1: "Paglilihi" or Pregnancy Cravings
 Many Filipinos, to this day, believe that
what you eat and crave for during
pregnancy has a direct influence on the
physical attributes of the baby. However,
scientific studies prove that there is no
link between paglilihi and the unborn
baby's physical attributes. As Genetics
tell us, our physical attributes are
inherited from our parents' and
grandparents' set of genes and not from
food cravings.

Source:
[Link]
glilihi-usog-and-other-filipino-pregnancy-myths
 As far as believing that babies can obtain
certain traits through pag-lilihi, genetics
provides a far more reasonable basis—that
it is genes and not food cravings that
dictate what traits are inherited from either
biological parents.

Source:[Link]
and-family/2018/12/17/1868827/truth-about-
paglilihian-expert-explains
Mutations

 Mutations are changes made to an organism’s genetic


material.

 Changes may be due to errors in replication, errors


during transcriptions, radiation, viruses and many other
things.
 Types of mutation
a. gene mutation
b. chromosomal mutation
1. Gene Mutations
a. point mutation
silent
missense
nonsense
b. frameshift mutation
TYPES OF insertion
MUTATIONS deletion
2. Chromosomal Mutations
a. deletion
b. duplication
c. inversion
d. translocation
POINT Large category of mutations that
MUTATIONS describe a change in single nucleotide
of DNA, that causes that DNA to be
different from the normal type gene
sequence
MUTATIONS
Substitution-bases are swapped for different ones

Insertion -Extra base pair is added to a sequence of


bases

Deletion-extra base pair is deleted from a sequence


SICKLE
CELL
ANEMIA

SUBSTITUTI
ON
HUNTINGTON’
S DISEASE

INSERTION
Huntington’s
disease
 Is a fatal genetic disorder
that causes the progressive
breakdown of nerve cells
in the brain. It
deteriorates a person’s
physical and mental
abilities usually during
their prime working
years.
CYSTIC
FIBROSIS

DELETION
GENETIC Caused by an abnormality in the genetic
makeup of an individual
DISORDER
S can be caused by a chromosomal
abnormality
Cri-du-chat syndrome
also known as 5p-(5p minus) syndrome, it is a
chromosomal condition that facial resulted
when a piece of chromosome 5 is missing

affected individuals have distinctive


facial features, including widely set eyes, low
ears, a small jaw and a rounded face
Down syndrome
DS can affect a person’s cognitive ability and
physical growth, cause mild to moderate
DOWN SYNDROME developmental issues and present a higher risk
of some health problems defects
 Around one in every 12 babies born with Edwards' syndrome survive beyond one year,
and they will live with severe physical and mental disabilities. Some children do survive
to early adulthood, but this is very rare.
Edward syndrome
Turner syndrome

 There are characteristic physical abnormalities which affect many but not
all people with Turner syndrome, such as short stature, swelling, broad
chest, low hairline, low-set ears, and webbed necks Girls with Turner
syndrome typically experience gonadal dysfunction (non-working ovaries,
which results in amenorrhea (absence of menstrual cycle) and sterility.
Concurrent health concerns may also be present, including congenital
heart disease, hypothyroidism
They are special…

And so YOU are!


Thank you!!!

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