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Genetic Disorders Detailed PPT Class12 Edited

Genetic disorders are medical conditions resulting from DNA mutations, which can be inherited or arise from new mutations, affecting various bodily functions. Key types include single-gene disorders, chromosomal disorders, and multifactorial disorders, with examples such as Sickle Cell Anemia and Down Syndrome. Early diagnosis through genetic testing and advancements in treatments like gene therapy are crucial for managing these conditions.

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20 views10 pages

Genetic Disorders Detailed PPT Class12 Edited

Genetic disorders are medical conditions resulting from DNA mutations, which can be inherited or arise from new mutations, affecting various bodily functions. Key types include single-gene disorders, chromosomal disorders, and multifactorial disorders, with examples such as Sickle Cell Anemia and Down Syndrome. Early diagnosis through genetic testing and advancements in treatments like gene therapy are crucial for managing these conditions.

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riteshh1409
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Genetic Disorders

• Biology Project | Class 12


• Name: Ritesh
• Class: 12th
• Roll No.: [Your Roll No.]
• School: [Your School Name]
Introduction to Genetic Disorders
• Genetic disorders are medical conditions
caused by changes (mutations) in the DNA
sequence. These disorders may be:
• • Inherited from parents
• • Caused by new mutations
• They can affect physical development,
metabolism, or the immune system.
Types of Genetic Disorders
• 1. Single-gene Disorders – Caused by
mutations in one gene (e.g., Sickle Cell
Anemia).
• 2. Chromosomal Disorders – Caused by
changes in the number/structure of
chromosomes (e.g., Down Syndrome).
• 3. Multifactorial Disorders – Result from
genetic and environmental factors (e.g.,
Diabetes, Cancer).
Sickle Cell Anemia
• • Caused by mutation in the HBB gene.
• • Red blood cells become sickle-shaped and
can block blood flow.
• • Inherited in an autosomal recessive pattern.
• • Symptoms: Pain, fatigue, swelling, vision
problems.
Down Syndrome
• • Caused by an extra copy of chromosome 21
(Trisomy 21).
• • Symptoms: Flat facial features,
developmental delays, low muscle tone.
• • Common chromosomal disorder.
• • Diagnosed via karyotyping or prenatal
screening.
Thalassemia
• • A group of blood disorders affecting
hemoglobin production.
• • Common in regions like India, the Middle
East, and Southeast Asia.
• • Inherited in an autosomal recessive pattern.
• • Symptoms: Fatigue, pale skin, slow growth,
bone deformities.
Hemophilia
• • A bleeding disorder caused by a deficiency in
clotting factors.
• • X-linked recessive disorder, more common in
males.
• • Minor injuries can lead to severe bleeding.
• • Managed by injecting clotting factors.
Cystic Fibrosis
• • Caused by mutations in the CFTR gene.
• • Leads to thick, sticky mucus affecting the
lungs and digestive system.
• • Symptoms: Frequent lung infections,
difficulty breathing, digestive issues.
• • Treated with medications and
physiotherapy.
Diagnosis and Treatment
• • Genetic testing (e.g., blood tests,
amniocentesis).
• • Prenatal screening identifies potential risks
before birth.
• • Treatment: Gene therapy (emerging),
symptom management, special diets,
counseling.
• • Early diagnosis is crucial.
Conclusion
• • Genetic disorders affect millions worldwide.
• • Awareness, prevention, and genetic
counseling can reduce risks.
• • Research and gene therapy offer hope for
future cures.
• • Stay informed and promote early screening.

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