Medical Genetics: Understanding Hereditary Diseases

Medical genetics is the branch of medicine that focuses on the role of genetic variations in human health and disease. It encompasses the study of inherited disorders, genetic predisposition to diseases, and the application of genetics in medical practice. Understanding the fundamentals of medical genetics is crucial for diagnosing, treating, and preventing genetic conditions.

Genes, composed of DNA, serve as the blueprint for the development and functioning of the human body. DNA is organized into chromosomes, with humans typically having 46 chromosomes arranged in 23 pairs. Of these, 22 pairs are autosomes, and one pair consists of sex chromosomes (XX in females and XY in males). Each parent contributes one chromosome per pair, ensuring genetic diversity.

Mutations, or changes in DNA sequences, play a key role in medical genetics. These mutations can be inherited or acquired and may lead to genetic disorders. Some mutations are benign, while others can disrupt normal biological functions, leading to conditions such as cystic fibrosis, sickle cell anemia, and Huntington’s disease. Mutations can be classified into different types, including point mutations, insertions, deletions, and chromosomal abnormalities.

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