Write notes on Single-gene mutation disorders in man in about 150 words each

(10 Marks) Anthropology Optional Paper CSE 2024

Introduction

Single-gene mutation disorders are genetic conditions caused by changes or mutations in a single gene. These mutations can alter the gene's function, leading to a range of hereditary disorders. Such mutations may be inherited in a dominant, recessive, or X-linked manner, depending on the gene involved and its location on the chromosomes.

Main Body

Examples of single-gene mutation disorders include Cystic Fibrosis, Sickle Cell Anemia, and Huntington's Disease. In Cystic Fibrosis, a recessive mutation in the CFTR gene leads to abnormal mucus production, affecting the lungs and digestive system. Sickle Cell Anemia is caused by a single base-pair mutation in the HBB gene, resulting in the production of abnormal hemoglobin and leading to red blood cells adopting a sickle shape. Huntington’s Disease, a dominant disorder, involves a mutation in the HTT gene, causing progressive neurodegeneration. These disorders follow specific inheritance patterns and can be diagnosed through genetic testing.

Conclusion

Single-gene mutation disorders highlight the critical role genetics plays in human health. Understanding these disorders is essential for diagnosis, genetic counseling, and the development of therapeutic interventions, which can improve the quality of life for affected individuals.

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