Human genetics is the study of inheritance in human beings, encompassing diverse fields like molecular genetics, genomics, and clinical applications, ultimately aiming to understand human nature, diseases, and effective treatments. The foundational principles of human inheritance are rooted in Gregor Mendel's model, which established that traits are passed down through discrete units called genes.

Key inheritance patterns include: * Autosomal dominant traits, which appear when only one copy of a gene on a non-sex chromosome is inherited (e.g., Huntington's disease, achondroplasia). * Autosomal recessive traits, which require two copies of a gene to be expressed, meaning individuals with one copy can be carriers (e.g., albinism, cystic fibrosis). * X-linked inheritance, where genes on the X chromosome often affect males more significantly due to their single X chromosome and lack male-to-male transmission (e.g., Coffin–Lowry syndrome). * Additionally, females undergo X-inactivation during embryonic development, a crucial process where one of their two X chromosomes is largely inactivated to ensure proper gene dosage.