Explain how the genetic defect alters normal physiology and how the genetic alteration manifests

Introduction

Sickle cell anemia is a hereditary blood disorder that alters the shape of red blood cells. Normally, red blood cells are round and can move easily through the vessels to transport oxygen throughout the body. However, in people with sickle cell anemia, the red blood cells are crescent or “sickle” shaped. The sickle shape prevents the red blood cells from moving easily through the vessels. This can cause a number of problems, including pain, anemia, and organ damage. The genetic defect that causes sickle cell anemia is passed down from parents to children. If both parents have the sickle cell gene, there is a 25% chance that their child will have sickle cell anemia.

What is a Genetic Defect?

A genetic defect is a change in the DNA sequence that results in an abnormal gene. This can lead to problems with the way the gene functions, which can cause health problems.

There are many different types of genetic defects, and they can be caused by different things. Some defects are inherited from a person’s parents, while others happen spontaneously.

Some genetic defects are more serious than others. Some can cause major health problems, while others may only cause minor issues.

How Does a Genetic Defect Alter Normal Physiology?

A genetic defect is a change in the DNA sequence that can cause a problem with the way the body functions. Many times, a genetic defect is passed down from one generation to the next. The most common type of genetic defect is called a point mutation, which is a change in a single DNA base.

Point mutations can cause problems with the way enzymes work, leading to altered physiology. For example, sickle cell anemia is caused by a point mutation in the hemoglobin gene. This mutation causes the hemoglobin protein to be abnormal, which leads to red blood cells that are shaped like sickles. These abnormal cells cannot carry as much oxygen and get stuck in small blood vessels, causing pain and other problems.

What is the Manifestation of a Genetic Alteration?

A genetic alteration is an alteration in the structure or function of a gene. The manifestation of a genetic alteration can vary depending on the specific gene involved and the severity of the mutation. In some cases, a genetic alteration may have no detectable effect on an individual’s phenotype, while in other cases, it can lead to severe health problems or death.

There are many different ways that a genetic alteration can manifest. For example, a change in the sequence of DNA can result in a change in the amino acid sequence of a protein encoded by the gene. This, in turn, can alter the three-dimensional structure of the protein and how it functions. A change in DNA sequence can also alter the expression of a gene, which is how much and when the gene is turned on or off. Changes in expression levels can impact how much protein is produced and where it is produced within the cell. Finally, epigenetic changes (alterations in chemical tags attached to DNA) can influence whether a gene is expressed or not without changing its DNA sequence.

Different types of mutations will result in different degrees of impact on an individual’s phenotype. For example, missense mutations (changes in DNA sequence that result in changes in amino acid sequence) often have less severe effects than nonsense mutations (changes that result in truncated proteins). deletions (losses of DNA sequence) typically have more severe effects than insertions (gains of DNA sequence).

The manifestation of a

Conclusion

The genetic defect that causes cystic fibrosis alters the body’s production of a protein called CFTR. This protein is responsible for transporting chloride ions across cell membranes. In people with cystic fibrosis, the defective CFTR protein results in an accumulation of chloride ions in the cells lining the lungs and other organs. This excess of chloride ions causes the mucus to become thick and sticky, which leads to the characteristic symptoms of cystic fibrosis.