प्रश्न 7. बिन्दु उत्परिवर्तन के कारण कौन सा रोग होता है।
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Answer:
दात्र कोशिका अरक्तास (Sickle cell anaemia)
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Point mutation is a type of genetic mutation that involves a change in a single nucleotide base in a DNA molecule. A nucleotide is a building block of DNA, and it consists of a nitrogenous base (adenine, guanine, cytosine, or thymine), a sugar molecule, and a phosphate group. A point mutation occurs when one of these bases is replaced by another, which can alter the genetic information encoded by the DNA molecule.
What is genetic ?
The area of biology known as genetics is concerned with how qualities are passed down from one generation to the next. It includes the investigation of genes, heredity, and biological variation. Genes are the fundamental components of heredity; they are DNA segments that hold the instructions necessary for an organism to develop and function.
There are many diseases that can be caused by point mutations, which are small changes in a single nucleotide base in a DNA molecule. Some examples of diseases caused by point mutations include:
1. Sickle cell anemia: This is a genetic disorder caused by a point mutation in the HBB gene, which codes for the beta-globin subunit of hemoglobin. The mutation results in an abnormal hemoglobin protein that causes red blood cells to become sickle-shaped, leading to a variety of health problems.
2. Cystic fibrosis: This is a genetic disorder caused by mutations in the CFTR gene, which codes for a protein that regulates the transport of salt and water in and out of cells. Point mutations in this gene can disrupt the function of the CFTR protein, leading to a buildup of thick, sticky mucus in the lungs and other organs.
3. Huntington's disease: This is a neurological disorder caused by a point mutation in the HTT gene, which codes for the huntingtin protein. The mutation leads to the accumulation of toxic protein aggregates in the brain, causing the progressive loss of cognitive and motor function.
These are just a few examples of the many diseases that can be caused by point mutations.
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