Biology Inheritance Principle part 42 (Mendelian Disorder: Sickle Cell anaemia) class 12 XII | Summary and Q&A

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May 11, 2015
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Biology Inheritance Principle part 42 (Mendelian Disorder: Sickle Cell anaemia) class 12 XII

TL;DR

This video explains the causes and inheritance patterns of sickle cell anemia and phenylketonuria, two common Mendelian disorders.

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Key Insights

  • 😪 Sickle cell anemia is caused by a mutation in the gene for hemoglobin, resulting in misshapen red blood cells and decreased oxygen-carrying capacity.
  • 😪 The shape of red blood cells in sickle cell anemia can cause complications and pain in bones, lungs, abdomen, and joints.
  • 🥺 Phenylketonuria is caused by a deficiency in the enzyme phenylalanine hydroxylase, leading to the accumulation of phenylalanine and potential mental retardation.
  • 👪 Both sickle cell anemia and phenylketonuria are inherited in an autosomal recessive manner, requiring both parents to be carriers or affected for a child to inherit the disorders.
  • 🧭 Genetic testing and counseling are important in determining the risk of passing on these disorders to future generations.
  • ❓ Early diagnosis and management of sickle cell anemia and phenylketonuria are crucial to minimize complications and ensure proper treatment.

Transcript

hello friends this video on principles of inheritance part 42 is brought to you by Graham Viacom no more pure from exam let us look at the next Mendelian disorder that has sickle cell anemia so let us see what happens in sickle cell anemia so before we talk about sickle cell anemia let's first understand about hemoglobin because it has a lot to do ... Read More

Questions & Answers

Q: What is the main characteristic of sickle cell anemia?

Sickle cell anemia is characterized by misshapen red blood cells that are sickle-shaped instead of rounded, leading to complications and decreased oxygen levels in the body.

Q: How does a mutation in the gene for hemoglobin affect its production?

A mutation in the gene for hemoglobin can lead to the production of abnormal proteins, resulting in misshapen red blood cells and decreased hemoglobin levels, causing sickle cell anemia.

Q: How is sickle cell anemia inherited?

Sickle cell anemia is inherited in an autosomal recessive manner, meaning a person needs to inherit two copies of the mutated gene, one from each parent, to develop the disorder.

Q: What is phenylketonuria and how does it occur?

Phenylketonuria is an inborn error of metabolism caused by a deficiency in the enzyme phenylalanine hydroxylase, leading to the accumulation of phenylalanine and potential mental retardation.

Q: How is phenylketonuria inherited?

Phenylketonuria is also inherited in an autosomal recessive manner, requiring a person to inherit two copies of the mutated gene for phenylalanine hydroxylase to be affected.

Summary & Key Takeaways

  • Sickle cell anemia is a genetic disorder characterized by misshapen red blood cells due to a mutation in the gene that codes for hemoglobin.

  • Phenylketonuria is an inborn error of metabolism caused by a lack of the enzyme that metabolizes phenylalanine, leading to its accumulation and potential mental retardation.

  • Both disorders are inherited in an autosomal recessive manner, meaning a person needs to inherit the mutated gene from both parents to be affected.

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