Go to the OMIM website (http://www.ncbi.nlm.nih.gov/omim) and locate the Search button at the top of the page. Use the Search function to look up, one by one, the following three human hereditary diseases that are relatively common in certain populations: 'Tay–Sachs disease' (select OMIM number 272800 from the search results list); 'cystic fibrosis' (select OMIM number 602421 from the search results list); and 'sickle cell anemia' (select OMIM 603903 from the search results list). For each of these diseases, look through the information and provide the following details:

What gene is mutated in the disease?

Key Concepts

Gene Mutation

A gene mutation refers to a permanent alteration in the DNA sequence that makes up a gene. These mutations can lead to changes in the structure and function of the proteins produced by the gene, which can result in various hereditary diseases. Understanding the specific mutations associated with diseases like Tay-Sachs, cystic fibrosis, and sickle cell anemia is crucial for diagnosing and developing treatments.

Hereditary Diseases

Hereditary diseases are disorders that are passed down from parents to offspring through genes. These diseases can be caused by mutations in single genes (monogenic disorders) or by complex interactions between multiple genes and environmental factors. Recognizing the genetic basis of these diseases helps in understanding their prevalence in certain populations and the implications for genetic counseling.

OMIM Database

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that catalogs human genes and genetic disorders. It provides detailed information about the genetic basis of diseases, including the specific genes involved, their mutations, and associated phenotypes. Utilizing OMIM is essential for researchers and clinicians to access up-to-date genetic information relevant to hereditary diseases.