0% found this document useful (0 votes)
17 views6 pages

Genetics

Uploaded by

jhlirado
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as DOCX, PDF, TXT or read online on Scribd
0% found this document useful (0 votes)
17 views6 pages

Genetics

Uploaded by

jhlirado
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as DOCX, PDF, TXT or read online on Scribd

P

REPLICATION

 Deoxyribonucleic acid is copied during the interphase prior


to mitosis and meiosis.
 the new copies are exactly the same like the original
 The DNA "unzip" to form two strands and separated. Each
single strand of DNA, then picks up bases present in the
cytoplasm
 This copying is called Replication.

Transcription

 is the process of making an RNA copy of a gene's DNA


sequence.
 The sequence of nucleotides in DNA directs the order of
nucleotides in messenger RNA

TRANSLATION

 the process of translating


(converting) the transcript (genetic
information) from the mRNA into a
specific sequence of amino acids in
the growing chain of a polypeptide
called the proteins.

What is Protein?

 an enzyme that is chained amino acid together in a certain order.


 each three nucleotide bases represents a codon in a DNA or mRNA that corresponds to a specific amino acid or a
start/ stop signal.
 the codon has its complement anticodon in tRNA
 Each amino acid that will form the protein molecule to be synthesized is determined by the triplet code or codon
on the mRNA
 CODON is a three-nucleotide or triplet sequence found on mRNA that codes for a certain amino acid during
translation.
 ANTICODON refers to the sequence of three adjacent nucleotides located on tRNA
 a genetic code or amino acid can be translated into certain proteins through the use of GENETIC CODE TABLE
 a GENETIC CODE TABLE codon table can be used to translate a genetic code into a sequence of amino acids.

MUTATION

 are heritable changes in the genetic coding


instructions of DNA.
 Mutations are very important as they create
genetic diversity. They drive evolution and allow
species to adapt to changing environment and
conditions.
 EX.
Albinism, where the body does not make any
pigment in their skin, hair, eyes.

Mutation Can occur in two different types of cells:

1. Body cell - it occurs in any cells in the body except sex cells.
- it is not transmitted to the offspring.
- can cause disease and cancer like breast and ovarian cancer.

2. Sex cells- it occurs in sex cells.


- can be pass on offspring
- can cause birth defects

Two Types of Mutations can occur in gamete cells

 Gene mutation

- Is a permanent change in the DNA sequence that makes up a gene

 Chromosomal mutation

- occurs at the chromosome level resulting in gene deletion, duplication or


rearrangement
- maybe caused by parts of chromosomes breaking off or rejoining incorrectly

Types of Gene mutation

Gene mutation results in changes in a single gene, changing the structure of DNA

 Point Mutation
- change within a gene in which one base pair in the DNA sequence is altered a single gene, changing
the structure of DNA
- Usually, point mutations arise as a result of mistakes during DNA replication; however, in some cases,
modification of DNA can be induced by X-rays or ultraviolet radiation.

Mechanism of Point Mutation

SUBSTITUTION
- is a type of mutation in which one nucleotide is replaced by a
different nucleotide
- The term can also refer to the replacement of one amino acid in a
protein with a different amino acid.
 Frameshift Mutation
- a type of gene mutation in which the addition or deletion of one or more nucleotides causes a shift
in the reading frame of the codons in the mRNA, which may lead to the alteration in the amino
acid sequence at protein translation

Types of Frameshift Mutation

INSERSION- is a type of mutation that involves the addition of one or more nucleotides into a segment of DNA
DELETION- is a type of mutation that involves the loss of one or more nucleotides from a segment of DNA.

TYPES OF CHROMOSOMAL MUTATION

 Chromosomal mutation involves long segment of DNA , changing the number or structure of whole
chromosome.

Mutation in chromosomes may occur in a variety of ways:

1. TRANSLOCATION
- A genetic change in which a piece of one
chromosome breaks off and attaches to another
chromosome. Sometimes pieces from two different
chromosomes will trade places with each other.
-involve 2 chromosomes
2. DELETION
- A type of genetic change that involves the absence
of a segment of DNA. It may be as small as a single
base but can vary significantly in size.
- Involve only one chromosome

3. INVERSION
- occurs when a segment breaks off and reattaches
within the same chromosome, but in reverse
orientation.
- -involve one chromosome

KARYOTYPES

 may reveal the gender of a fetus or test for certain defects through examination of cells from uterine fluid- a
procedure called AMNIOCENTESIS

GENETIC DISORDERS

 It may affect the structure of chromosomes can cause problems with growth, development, and function of the
body's system
 the gain and loss of chromosome material can lead to a variety of genetic disorders.
 Cri du Chat
- It is caused by the deletion of part of the short arm of the chromosomes 5
- " Cri du chat" is French, and the condition is so named because affected babies make high-pitched
cries that sound like a cat.
- Affected individuals have wide-set eyes, a small head and jaw, are moderately to severely mentally
retarded, and very short
 Down Syndrome
- It is usually caused by an extra copy of Chromosome 21, that is why it is called as TRISOMY 21
- Characteristics include decreased muscle tone. stockier build, asymmetrical skull, slanting eyes and
mild to moderate mental retardation.
 Edwards Syndrome
- second most common trisomy after Down Syndrome, trisomy of chromosome 18
- Symptoms include mental and motor retardation and numerous congenital anomalies causing
serious health problem.
- About 99% die in infancy
 Jacobsen Syndrome
- Also called as terminal 11q deletion disorder
- a very rare disorder
- they may have normal intelligence or mild retardation, with poor or excessive language skills.
- most have a bleeding disorder called Paris- Trousseau Syndrome.
 Klinefelter's Syndrome
- also known as the XXY Syndrome
- is a genetic condition that results when a boy is born with an extra copy of the X chromosome.
Klinefelter syndrome is a genetic condition affecting males,
 Turner's Syndrome
- the female sexual characteristics are present but underdeveloped, instead of XX or XY , there is only
one X present

GENETIC ENGINEERING

- a biotechnology that produces transgenic or GM crops of organism.


- when the two different species are joined together, it is called Recombinant DNA
- The artificial manipulation, modification, and recombination of DNA or other nucleic acid molecules
in order to modify an organism or population of organisms.

Application of Recombinant DNA technology

 medical applications
 gene therapy
 vaccinations
 DNA fingerprinting
 creation of GM crops
 make extra vitamins and minerals for bacteria that can clean oil spills

METHOD OF GENETIC ENGINEERING

1. Direct replacement of genes


- Also known as RECOMBINATION
- refers to the rearrangement of DNA sequences by the breakage and rejoining of chromosomes or
chromosome segments
2. INSERTION
3. REMOVAL

You might also like