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How Are Changes in Nucleotide Composition Linked to Genetic Disorders?

Changes in the building blocks of our genes can greatly affect how our bodies work. Sometimes, these changes can even cause genetic disorders.

  1. Nucleotide Variants: A common type of genetic change is called a single nucleotide polymorphism, or SNP for short. About 90% of the differences we see in human genes come from SNPs. These changes can affect how genes function and how they are controlled.

  2. Mutations: Sometimes, a very small change called a point mutation happens. This means that just one nucleotide changes. For example, in sickle cell disease, a single change in the HBB gene affects the shape of hemoglobin, a protein in our blood. This affects about 1 in every 365 African American babies born.

  3. Consequences: When these genetic changes happen, they can mess up how proteins are made in our bodies. This can lead to health issues like cystic fibrosis, which affects about 1 in 3,600 babies. It can also contribute to different types of cancer. These examples show how important nucleotide changes are in our heredity and overall health.

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How Are Changes in Nucleotide Composition Linked to Genetic Disorders?

Changes in the building blocks of our genes can greatly affect how our bodies work. Sometimes, these changes can even cause genetic disorders.

  1. Nucleotide Variants: A common type of genetic change is called a single nucleotide polymorphism, or SNP for short. About 90% of the differences we see in human genes come from SNPs. These changes can affect how genes function and how they are controlled.

  2. Mutations: Sometimes, a very small change called a point mutation happens. This means that just one nucleotide changes. For example, in sickle cell disease, a single change in the HBB gene affects the shape of hemoglobin, a protein in our blood. This affects about 1 in every 365 African American babies born.

  3. Consequences: When these genetic changes happen, they can mess up how proteins are made in our bodies. This can lead to health issues like cystic fibrosis, which affects about 1 in 3,600 babies. It can also contribute to different types of cancer. These examples show how important nucleotide changes are in our heredity and overall health.

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