Real, Nahum Raphael D.

BSN- 113

Activity 1
Summary of Central Dogma

Central Dogma is the mechanism by which the DNA instruction is translated to a

functioning object. It was first suggested by the discoverer of the DNA system, Francis Crick, in
1958. Central Dogma in Biochemistry is a mechanism by which DNA makes copies of itself by
the DNA mechanism to create new DNA known as DNA replication, DNA to make new RNA
known as the transcription cycle, and RNA to make new protein called the translation process.
One strand of the gene's DNA is replicated in transcription to produce an RNA molecule.
The RNA transcript must undergo additional processing steps when in eukaryotes, in order to
become a mature messenger RNA (mRNA). This step is called transcription since it involves the
editing or transcription of the DNA sequence in a common "alphabet" RNA. In addition, the
nucleotide sequence of mRNA is decoded to determine the polypeptide amino acid sequence. This
process takes place inside a ribosome and involves adapter molecules called tRNAs. The term
translation represents the need to translate the nucleotide sequence of the mRNA gene into the
entirely separate "language" of amino acids.
Therefore, material flows from DNA as well as RNA as mrna through the expression of a
mrna-coding gene. The basic principle of molecular biology is known as the directed flow of
information. Non-protein-coding genes (genes defining specific RNAs) are also being transcribed
to generate an RNA but this RNA is not being converted into a polypeptide. For any gene type,
the gene expression is regarded as the cycle of moving from DNA to a functional drug. The
nucleotides of the mRNA are read in groups of three called codons during translation. Can codon
shall indicate a particular amino acid or a stop signal. The collection of relationships is called the
genetic code.
 References:

https://www.khanacademy.org/science/high-school-biology/hs-molecular-genetics/hs-rna-and-
proteinsynthesis/a/intro-to-gene-expression-central-dogma
https://www.yourgenome.org/facts/what-is-the-central-dogma
Real, Nahum Raphael D.
Sec 113

Activity 2
Search for 5 Mutation-associated disorders

Disease: Type of Etiology/Cause: Clinical Features: Treatment:

Mutation:
1. color-blindness OPN1LW, A hereditary Inability to No treatments
OPN1MW, and defect caused differentiate for most types
OPN1SW gene by a variation between colors of of color vision
mutation. in the reaction the same or difficulties.
to certain colors identical colours.
of one or more For red and white,
light-sensitive or blue and purple,
cells located in this occurs often.
the retina of the
eye. These
cells, called
cones, detect
luminous
wavelengths
and allow the
retina to
differentiate
between
colours.
2. Tay-Sachs Autosomal Cystic fibrosis Frequent No cure for
disease recessive gene (CF) is caused respiratory Tay-Sachs
mutation by a mutation infections include disease, but
in the CFTR bronchitis or some
Gen. This gene pneumonia. treatments can
produces a Wheezing, or help in
protein that breathlessness. managing
regulates salt Low weight gain symptoms.
and water flow or growth despite
in and out of healthy appetite.
the cells of the Frequent greasy,
body. thick stools or
 gastrointestinal
problems.
3. Phenylketonuria Point mutations Caused by Seizures, shivering No cure for
in the PAH mutations in or sweating, Tay-Sachs
gene. both alleles of stunted disease, but
the gene for development and some
phenylalanine hyperactivity. treatments can
hydroxylase help in
(PAH), found managing
on chromosome symptoms.
12.
4. Cystic fibrosis Cystic Fibrosis CFTR gene Frequent No cure for
Transmembrane deficiency respiratory cystic fibrosis,
conductance causes CF infections include but treatment
(Cystic bronchitis or can
Fibrosis). This pneumonia.
gene produces a Wheezing, or
protein that breathlessness.
regulates salt Low weight gain
and water flow or growth despite
in and out of healthy appetite.
the cells of the Frequent greasy,
body. thick stools or
gastrointestinal
problems.
5. Hemophilia X chromosome Caused by a Urine blood, Treatment for
that has mutation or abdominal blood, hemophilia is
a mutation in alteration in deep bruises, big, called
either the factor one of the mysterious bruises replacement
VIII or factor genes which and heavy therapy.
IX gene. provides bleeding.
instructions for
making the
protein
coagulation
factor required
to form a blood
clot.
References:

https://ghr.nlm.nih.gov/condition/alpha-thalassemia
https://www.mayoclinic.org/diseases-conditions/thalassemia/symptoms-causes/syc-
20354995
https://ghr.nlm.nih.gov/condition/color-vision-deficiency#genes
https://www.mayoclinic.org/diseases-conditions/poor-color-vision/symptoms-
causes/syc20354988
https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-
20353700
https://www.ncbi.nlm.nih.gov/books/NBK22253/
https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-
causes/syc20376302