Mutations and disorder a presentation about mutation

a dircet instrutional

1. MUTATIONS A nd Genetic Disorders

2. Fonts To view this template correctly in PowerPoint, download and install the fonts we used Used and alternative resources An assortment of graphic resources that are suitable for use in this presentation Thanks slide You must keep it so that proper credits for our design are given Colors All the colors used in this presentation Icons and infographic resources These can be used in the template, and their size and color can be edited Editable presentation theme You can edit the master slides easily. For more info, click here For more info: SLIDESGO | BLOG | FAQs You can visit our sister projects: FREEPIK | FLATICON | STORYSET | WEPIK | VIDEVO A genetic mutation is a permanent alteration in the DNA sequence of an organism. Mutations can occur naturally or be induced by environmental factors. They can have beneficial, neutral, or harmful effects on an organism.

3. Types of Genetic Mutations Based on Structure ✅ Point Mutation – A single nucleotide change. Substitution – One base is replaced by another (e.g., A → G).

4. Types of Genetic Mutations Insertion – Extra nucleotide(s) added.

5. Types of Genetic Mutations Deletion – Nucleotide(s) removed.

6. ✅ Frameshift Mutation – Insertions or deletions that shift the reading frame of the genetic code, potentially altering every amino acid after the mutation.

7. ✅ Chromosomal Mutation – Large-scale changes in chromosome structure.

8. Changes in chromosome structure 1) INVERSION: the order of genes on a chromosome is inverted 2) TRANSLOCATION: the movement of a chromosome fragment to a nonhomologus chromosome

9. 3. DELETION Loss of a few bases Loss of large regions of a chromosome 4. DUPLICATION Duplication of a few bases Duplication of large regions of a chromosome

10. Crossing Over Occurs when chromosomes exchange genes . 2 chromosomes overlap. Some genes cross over and switch places

11. NONDISJUNCTION Nondisjunction : chromosome pair fails to separate properly during meiosis Monosomy : gamete has 1 less chromosome than it should 45 chromosomes is the result Ex: Turner syndrome Missing a sex chromosome

12. Types of Mutation Disorders 1 . Single-Gene Disorders (Monogenic Disorders) Caused by mutations in a single gene. 🔹 Sickle Cell Anemia – A point mutation in the HBB gene causes red blood cells to become crescent-shaped, leading to pain and organ damage.

13. Types of Mutation Disorders 1. Single-Gene Disorders (Monogenic Disorders) Caused by mutations in a single gene. 🔹 Cystic Fibrosis (CF) – A deletion mutation in the CFTR gene results in thick mucus buildup in the lungs and digestive system. 🔹 Huntington’s Disease – A repeat expansion mutation in the HTT gene causes progressive brain cell degeneration.

14. 🔹 Duchenne Muscular Dystrophy (DMD) – A mutation in the DMD gene leads to muscle weakening over time.

15. Huntington’s Disease – A repeat expansion mutation in the HTT gene causes progressive brain cell degeneration.

16. 🔹 Turner Syndrome (Monosomy X) – Females with only one X chromosome may have heart defects and infertility.

17. Chromosomal DisordersCaused by structural changes or missing/extra chromosomes. 🔹 Down Syndrome (Trisomy 21) – An extra copy of chromosome 21 causes developmental delays and intellectual disability. 🔹

18. 🔹 Cri-du-chat Syndrome – A deletion in chromosome 5 leads to intellectual disabilities and a distinctive cry in infants.

19. 3 . Multifactorial DisordersCaused by multiple genetic mutations and environmental factors. 🔹 Cancer – Mutations in tumor suppressor genes (e.g., TP53) or oncogenes (e.g., BRCA1/BRCA2) can lead to uncontrolled cell growth. 🔹 Type 2 Diabetes – Genetic susceptibility combined with lifestyle factors leads to insulin resistance. 🔹 Heart Disease – Genetic mutations in cholesterol-regulating genes can increase the risk.

20. Causes of Mutation Disorders 🧬 Inherited Mutations – Passed from parents (e.g., cystic fibrosis). 🔬 Spontaneous Mutations – Occur randomly during DNA replication (e.g., cancer). ☢️ Environmental Mutagens – Radiation, chemicals, or viruses can induce mutations.

21. Can Mutation Disorders Be Treated? ✅ Gene Therapy – Replacing or repairing faulty genes (e.g., for some immune disorders). ✅ Medications – Targeting specific mutation effects (e.g., CFTR modulators for cystic fibrosis). ✅ Lifestyle & Medical Management – Managing symptoms with specialized care (e.g., diet, physical therapy).