Select a human hereditary disease or condition you would like to know more about. Using the OMIM website (http://www.ncbi.nlm.nih.gov/omim), search for the disease and prepare a short synopsis of your findings. Include the following information:

The gene mutated in the disease and its chromosome location.

Key Concepts

Human Hereditary Diseases

Human hereditary diseases are conditions caused by genetic mutations that can be passed from one generation to the next. These diseases can result from single-gene mutations, chromosomal abnormalities, or multifactorial inheritance, where multiple genes and environmental factors contribute. Understanding the nature of these diseases is crucial for identifying their genetic basis and potential treatments.

OMIM Database

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative database that catalogs human genes and genetic disorders. It provides detailed information about the genetic basis of diseases, including gene mutations, chromosomal locations, and inheritance patterns. Researchers and clinicians use OMIM to access up-to-date information on genetic conditions, which is essential for diagnosis and research.

Gene Mutation and Chromosome Location

Gene mutations are alterations in the DNA sequence of a gene that can lead to hereditary diseases. These mutations can be point mutations, deletions, or insertions, affecting the gene's function. The chromosome location indicates where the gene is situated within the human genome, which is crucial for understanding the genetic architecture of the disease and its inheritance patterns.