Single-gene mutation disorders in man Approach
⦁ Introduction: What is Single-gene mutation
⦁ Body: add the ingle-gene mutation disorders in man with relevant examples with significance and challenges and limitations.
⦁ Conclusion: add in contemporary context
INTRODUCTION
Single-gene mutation disorders, also known as Mendelian disorders, are caused by mutations in a single gene. These disorders follow predictable inheritance patterns and can be classified into different types based on their mode of inheritance: autosomal dominant, autosomal recessive, and X-linked.
BODY
Here are some notable examples and their significance:
Examples of Single-Gene Mutation Disorders
⦁ Cystic Fibrosis (CF):
⦁ Inheritance: Autosomal recessive
⦁ Cause: Mutations in the CFTR gene
⦁ Symptoms: Chronic respiratory infections, pancreatic insufficiency, and digestive problems.
⦁ Sickle Cell Anaemia:
⦁ Inheritance: Autosomal recessive
⦁ Cause: Mutation in the HBB gene leading to abnormal haemoglobin (HbS)
⦁ Symptoms: Painful episodes, anaemia, and increased risk of infections.
⦁ Huntington’s Disease:
⦁ Inheritance: Autosomal dominant
⦁ Cause: Mutation in the HTT gene leading to abnormal expansion of CAG repeats
⦁ Symptoms: Progressive neurodegeneration, motor dysfunction, and cognitive decline
⦁ Marfan Syndrome:
⦁ Inheritance: Autosomal dominant
⦁ Cause: Mutations in the FBN1 gene
⦁ Symptoms: Connective tissue abnormalities, cardiovascular issues, and skeletal deformities
⦁ Haemophilia:
⦁ Inheritance: X-linked recessive
⦁ Cause: Mutations in the F8 or F9 gene
⦁ Symptoms: Prolonged bleeding, easy bruising, and joint damage.
Significance
⦁ Medical Research and Treatment:
⦁ Understanding the genetic basis of these disorders has led to the development of targeted therapies and genetic counselling. For example, gene therapy is being explored as a potential treatment for cystic fibrosis and haemophilia
⦁ Genetic Counselling:
⦁ Families affected by single-gene disorders can benefit from genetic counselling to understand the risks, inheritance patterns, and implications for future generations
⦁ Personalized Medicine:
⦁ Advances in genomics have paved the way for personalized medicine, where treatments can be tailored based on an individual’s genetic makeup. This approach is particularly relevant for managing single-gene disorders
CONCLUSION
Single-gene mutation disorders highlight the intricate relationship between genetics and health. While they present significant challenges, advances in genetic research and personalized medicine offer hope for better diagnosis, management, and treatment. Understanding these disorders is crucial for improving patient outcomes and addressing the ethical and social implications of genetic testing.
Anthropology Full Course at Vishnu IAS Academy
What does Course Offer?
- 4 Months (250+ Class Hours)
- Online (App + Web) / Offline / Hybrid Mode of Classes
- Live + Recorded Videos Access For 1 Year
- 2 Hour Live Class From Monday to Saturday (1.5 Hours for Class + ½ Hour for Doubt Solving)
- Foundation to Advanced Level of Teaching
- Simple and Integrated Content
- One Stop Solution Books
- Regular Value Added Content
- Current Affairs & Case Studies Modules
- Daily Answer Writing Practice
- Weekly Grand Tests On Sundays & Evaluation With Guidance and Topper Will be Rewarded
- 500+ Model Answers
- 9 AM – 9 PM Support System
- Free GS Current Affairs
- Free Interview Guidance for Anthropology
