CEHPALOSPORINS.pptx By Harshvardhan Dev Bhoomi Uttarakhand University
Mutation by Rimsha Khan.ppt
1. Subject: Advances in Molecular Genetics.
Presented To: Dr. Ali Raza Awan.
Presented By: Rimsha Khan.
(Ph.D Molecular Biology & Biotechnology)
MUTATIONS
2. WHAT ARE MUTATIONS?
• Changes in the nucleotide sequence
of DNA that ultimately reflects
the changes in phenotype.
• May occur in somatic cells (aren’t
passed to offspring)
• May occur in gametes (eggs &
sperm) and be passed to offspring
3. ARE MUTATIONS HELPFUL OR
HARMFUL?
• Mutations happen regularly
• Almost all mutations are neutral
• Chemicals & UV radiation cause
mutations
• Many mutations are repaired by
enzymes
• Variances help in natural selection
and survival
4. ARE MUTATIONS HELPFUL OR
HARMFUL?
• Some type of skin cancers and
leukemia result from somatic
mutations
• Some mutations may improve an
organism’s survival (beneficial)
18. GENE MUTATIONS
• Change in the nucleotide
sequence of a gene
• May only involve a single
nucleotide. So these are also
called Point Mutations.
• Occurs due to copying errors,
chemicals, viruses, etc.
19. POINT MUTATION
• Change of a single nucleotide
• Includes the deletion,
insertion, or substitution of
ONE nucleotide in a gene
20. EXAMPLE OF POINT MUTATION
• Sickle Cell disease
is the result of one
nucleotide
substitution
• Occurs in the
hemoglobin gene
21. TYPES OF POINT MUTATIONS
Include:
• Missense Mutations
• Nonsense Mutations
• Frame shift Mutations
22. MISSENSE MUTATIONS
• Sense of codon is missed.
• Misfolded proteins.
• Affects folding structures of proteins
• Protein degradation/ Malfunctioning
• CAT CAT CAT CAT (histidine)
• CAT CGT CAT CAT
(pro)
23. NONSENSE MUTATIONS
• It produces Shorter/Truncated Proteins
• Results in defected proteins
• Stop codons are involved
• Signals of protein formations to ribsosomes blocks.
• Protein degradation/ Malfunctioning
• Sense of codons is completely blocked
• CAG CAG CAG CAG (glutamin)
• CAG TAG CAG CAG
• UAG
24. FRAMESHIFT MUTATION
• Inserting or deleting one or more
nucleotides
• Changes the “open reading frame”
(ORF) like changing a sentence.
• Proteins built incorrectly.
• Most dangerous.