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Human genetics is the study of inheritance as it occurs in human beings. At its core, it explores how specific traits, predispositions, and biological functions are passed from one generation to the next through Deoxyribonucleic Acid (DNA).

The Genomic Architecture

The human genome consists of approximately 3 billion base pairs of DNA packaged into 23 pairs of chromosomes. Within these sequences are genes—functional units that provide the instructions for synthesizing proteins. Proteins, in turn, serve as the building blocks for enzymes, hormones, and structural tissues.

Genetic Variation and Mutation

While humans share about 99.9% of their genetic code, the 0.1% variance accounts for individual differences. These variations can be:

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