biology-class-12-unit-06-chapter-11-genetics-and-evolution-molecular-basis-of-inheritance-l-11-12-jnbxumuh3ze

### <Success style="font-size:25px"> Genetics And Evolution Molecular Basis Of Inheritance L-11 </Success>
### <primary style="font-size:24px"> Central dogma </primary>
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<footer style = "font-size: 18px">Mutation $\rightarrow$ Effect of Mutation $\rightarrow$ <span style = "color:blue"> Central dogma </span> $\rightarrow$ Types of mutation $\rightarrow$ Types of mutation </footer>

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### <primary style="font-size:24px"> Point mutation </primary>
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- **Base pair substitution**

- Change from one base pair to another

- Transition mytation: purine replaced by purine and pyrimidine replaced by pyrimidine

- Transversion mutation: Purine replaced by pyrimidine and pyrimidine replaced by purine

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![image](/subject-images/iitpal/image/biology-class-12-unit-06-chapter-11-genetics-and-evolution-molecular-basis-of-inheritance-l-11_12-jnbxumuh3ze-01.jpg)

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<footer style = "font-size: 18px">Types of mutation $\rightarrow$ Types of mutation $\rightarrow$ <span style = "color:blue"> Point mutation </span> $\rightarrow$ Point mutation $\rightarrow$ Nonsense mutation </footer>

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### <primary style="font-size:24px"> Point mutation </primary>
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- Some examples of point mutation

- Missense mutation -  a gene mutation in which a base pair changes in an mrna codon so that different amino acid is inserted into polypeptide chain

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![image](/subject-images/iitpal/image/biology-class-12-unit-06-chapter-11-genetics-and-evolution-molecular-basis-of-inheritance-l-11_12-jnbxumuh3ze-048-0602.4.jpg)

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<footer style = "font-size: 18px">Types of mutation $\rightarrow$ Point mutation $\rightarrow$ <span style = "color:blue"> Point mutation </span> $\rightarrow$ Nonsense mutation $\rightarrow$ Neutral mutation </footer>

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### <primary style="font-size:24px"> Nonsense mutation </primary>
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- A gene mutation in which a base pair change alters an mRNA codon for an amino acid to a stop codon (UAG, UGA, UAA)

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![image](/subject-images/iitpal/image/biology-class-12-unit-06-chapter-11-genetics-and-evolution-molecular-basis-of-inheritance-l-11_12-jnbxumuh3ze-050-0712.8.jpg)

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<footer style = "font-size: 18px">Point mutation $\rightarrow$ Point mutation $\rightarrow$ <span style = "color:blue"> Nonsense mutation </span> $\rightarrow$ Neutral mutation $\rightarrow$ Silent mutation </footer>

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### <primary style="font-size:24px"> Neutral mutation </primary>
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- A gene mutation in which a base pair change a codon in the mRNA such that the resulting amino acid substitution produces no detectable change in the function of protein translated from that mRNA

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<footer style = "font-size: 18px">Point mutation $\rightarrow$ Nonsense mutation $\rightarrow$ <span style = "color:blue"> Neutral mutation </span> $\rightarrow$ Silent mutation $\rightarrow$ Frameshift mutation </footer>

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### <primary style="font-size:24px"> Silent mutation </primary>
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- A gene mutation that changes a base pair but the altered codon in the mRNA specifies the same amino acid in the protein

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<footer style = "font-size: 18px">Nonsense mutation $\rightarrow$ Neutral mutation $\rightarrow$ <span style = "color:blue"> Silent mutation </span> $\rightarrow$ Frameshift mutation $\rightarrow$ Mutation on the basis of occurrence </footer>

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### <primary style="font-size:24px"> Frameshift mutation </primary>
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- If one or more base pairs are added or deleted from a protein coding gene, the reading frame of a mRNA can change downstream of the mutation

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![image](/subject-images/iitpal/image/biology-class-12-unit-06-chapter-11-genetics-and-evolution-molecular-basis-of-inheritance-l-11_12-jnbxumuh3ze-060-1150.8.jpg)

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<footer style = "font-size: 18px">Neutral mutation $\rightarrow$ Silent mutation $\rightarrow$ <span style = "color:blue"> Frameshift mutation </span> $\rightarrow$ Mutation on the basis of occurrence $\rightarrow$ Spontaneous Mutation caused by </footer>

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### <primary style="font-size:24px"> Depurination </primary>
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- Loss of purine from DNA when the bond hydrolyzes between base and the deoxyribose sugar, resulting in an apurinic site

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![image](/subject-images/iitpal/image/biology-class-12-unit-06-chapter-11-genetics-and-evolution-molecular-basis-of-inheritance-l-11_12-jnbxumuh3ze-061-1234.8.jpg)

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<footer style = "font-size: 18px">Mutation on the basis of occurrence $\rightarrow$ Spontaneous Mutation caused by $\rightarrow$ <span style = "color:blue"> Depurination </span> $\rightarrow$ Nucleotide $\rightarrow$ Deamination </footer>

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### <primary style="font-size:24px"> Base anologs </primary>
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- Bases that are similar to those normally found in DNA

- Example: 5-bromouracil base analog of thymine

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![image](/subject-images/iitpal/image/biology-class-12-unit-06-chapter-11-genetics-and-evolution-molecular-basis-of-inheritance-l-11_12-jnbxumuh3ze-03.jpg)

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<footer style = "font-size: 18px">Deamination $\rightarrow$ Induced mutation $\rightarrow$ <span style = "color:blue"> Base anologs </span> $\rightarrow$ Base modifying agent $\rightarrow$ Intercalating agent </footer>

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### <primary style="font-size:24px"> Variation in chromosomal number </primary>
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- When an organism or a cell has one complete set of chromosomes or an exact multiple of complete sets, that organism or cell is said to be euploid

- Chromosome mutations that result in variations in the number of chromosome sets occur in nature, and the resulting organism or cells are also euploid. Chromosome mutations resulting in variations in the number of individual chromosomes are examples of aneuploidy

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<footer style = "font-size: 18px">Chromosomal mutation $\rightarrow$ Variation in chromosomal structure $\rightarrow$ <span style = "color:blue"> Variation in chromosomal number </span> $\rightarrow$ Types of Aneuploidy $\rightarrow$ Types of Aneuploidy </footer>

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### <primary style="font-size:24px"> Types of Aneuploidy </primary>
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- 1. Nullisomy (a nullisomic cell) involves a loss of one homologous chromosome pair i.e. 2N-2

- 2. Monosomy (a monosomic cell) involves a loss of a single chromosome i.e. 2N-1

- 3. Trisomy (a trisomic cell) involves a single extra chromosome i.e. 2N+1

- 4. Tetrasomy (a tetrasomic cell) involves an extra chromosome Pair i.e. 2N+2

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<footer style = "font-size: 18px">Variation in chromosomal structure $\rightarrow$ Variation in chromosomal number $\rightarrow$ <span style = "color:blue"> Types of Aneuploidy </span> $\rightarrow$ Types of Aneuploidy $\rightarrow$ Changes in complete sets of chromosomes </footer>

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### <primary style="font-size:24px"> Types of Aneuploidy </primary>
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- cell  
- = 46 - 1 = 45 = Monosomy
- = 46 + 1 = 47 = Trisomy
- = 46 + 2 = 48 = Tetragony

- 2N - N = N = Monoploidy
- 2N + N = 3N =Polyploich
- 2N + 2N = 4N

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<footer style = "font-size: 18px">Variation in chromosomal number $\rightarrow$ Types of Aneuploidy $\rightarrow$ <span style = "color:blue"> Types of Aneuploidy </span> $\rightarrow$ Changes in complete sets of chromosomes $\rightarrow$ Repair of DNA damage </footer>

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### <primary style="font-size:24px"> Changes in complete sets of chromosomes </primary>
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- Monoploidy. A monoploid individual has only one set of chromosomes instead of the usual two sets

- Polyploidy. Polyploidy is the chromosomal constitution of a cell or an organism that has more than the normal two sets of homologous chromosomes

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<footer style = "font-size: 18px">Types of Aneuploidy $\rightarrow$ Types of Aneuploidy $\rightarrow$ <span style = "color:blue"> Changes in complete sets of chromosomes </span> $\rightarrow$ Repair of DNA damage $\rightarrow$ Direct repair system </footer>

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### <primary style="font-size:24px"> Repair of DNA damage </primary>
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- Repairing of DNA mutation by various enzymes present in cells

- Types

- Direct Repair system  
 - Excision Repair System

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<footer style = "font-size: 18px">Types of Aneuploidy $\rightarrow$ Changes in complete sets of chromosomes $\rightarrow$ <span style = "color:blue"> Repair of DNA damage </span> $\rightarrow$ Direct repair system $\rightarrow$ Excision repair system </footer>

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### <primary style="font-size:24px"> Direct repair system </primary>
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- 1. Mismatch repair by DNA polymerase proofreading

- 2. Repair of UV-Induced pyrimidine dimers by photolyase enzyme, coded by phr gene

- 3. Repair of alkylation damage by 06- methylguanine methyltransferase enzyme encoded by ada gene

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<footer style = "font-size: 18px">Changes in complete sets of chromosomes $\rightarrow$ Repair of DNA damage $\rightarrow$ <span style = "color:blue"> Direct repair system </span> $\rightarrow$ Excision repair system $\rightarrow$ Excision repair system </footer>

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### <primary style="font-size:24px"> Excision repair system </primary>
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- 1. Base excision repair - depurination and deamination mutations are repair by glycosylase enzyme

- 2. Nucleotide excision repair - By UvrA, UvrB, UvrC and UvrD enzymes encoded by uvrA, uvrB,uvrC and uvrD genes respectivel

- 3. Methyl directed mismatch repair - By MutL, Muts & MutH enzymes encoded by mutL,muts & mutH genes respectively

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![image](/subject-images/iitpal/image/biology-class-12-unit-06-chapter-11-genetics-and-evolution-molecular-basis-of-inheritance-l-11_12-jnbxumuh3ze-143-2816.4.jpg)

![image](/subject-images/iitpal/image/biology-class-12-unit-06-chapter-11-genetics-and-evolution-molecular-basis-of-inheritance-l-11_12-jnbxumuh3ze-163-2990.4.jpg)

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<footer style = "font-size: 18px">Repair of DNA damage $\rightarrow$ Direct repair system $\rightarrow$ <span style = "color:blue"> Excision repair system </span> $\rightarrow$ Excision repair system $\rightarrow$ Excision repair system </footer>

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### <primary style="font-size:24px"> Excision repair system </primary>
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- 1. Identification of damaged portion

- 2. Removal of damaged DNA along with Correct seq

- 3. Filling of Grap by DNA polymerase

- 4. Bealing of Nick by ONA ligabe

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<footer style = "font-size: 18px">Direct repair system $\rightarrow$ Excision repair system $\rightarrow$ <span style = "color:blue"> Excision repair system </span> $\rightarrow$ Excision repair system $\rightarrow$ Answer these Questions </footer>

### <Success style="font-size:25px"> Genetics And Evolution Molecular Basis Of Inheritance L-11 </Success>
### <primary style="font-size:24px"> Answer these Questions </primary>
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- **Question 1.** What is Mutation?

- **Question 2.** What will be the effect of mutation on living system?

- **Question 3.** What is Trisomy?

- **Question 4.** Define Mutagen

- **Question 5.** Do you think mutation can be repaired?

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<footer style = "font-size: 18px">Excision repair system $\rightarrow$ Excision repair system $\rightarrow$ <span style = "color:blue"> Answer these Questions </span> $\rightarrow$ Thank you $\rightarrow$  </footer>