The Iranian human mutation database.

Introduction ore than 20 years have elapsed since the first single base pair substitution underlying an inherited disease in humans was characterized at the DNA level. Disease-associated gene lesions are currently collected and publicized by the Human Gene Mutation Database (HGMD) in Cardiff, locusspecific mutation databases, and to some extent by the Genome Database (GDB) and Online Mendelian Inheritance in Man (OMIM) as comprehensive and up-to-date resources for information on genetic disorders and mutations causing them. – 4 The mutation spectrum observed for any gene or disorder will often vary not only between population groups but also between distinct ethnic groups within a geographical region. This is an important extra-dimension reflected in the recent emergence of a new type of mutation depository, namely the National Mutation Databases (NMDBs) that serve to enhance awareness among health care professionals, bioscientists, patients, and the general public about the range of common genetic disorders, and can provide essential reference information for the detection of mutations for clinical laboratory settings. Information on inherited disorders in Iran is not extensive. There are only two detailed studies on the incidence of beta-thalassemia 7 and nonsyndromic sensorineural deafness. But a huge amount of sporadic data are available for more than 100 genetic diseases, such as G6PD, alphathalassemia, sporadic breast cancer, infertility, mental retardation, cystic fibrosis, familial Mediterranean fever, etc. By studying the multiethnic Iranian population (Figure 1), researchers have access to a valuable genetic pool as it has been shown that the mutation spectrum in each region of Iran corresponds to the mutation spectrum in neighboring countries (Figure 2). Because of its very rich gene pool, Iran has a valuable source of material for the identification of the genes involved in different conditions. In order to promote the human genome study in a collaborative worldwide manner, the Iranian Human Mutation Gene Bank has been established and through this DNA bank many collaborative projects have been started. Presentation of the latest information of such joint-projects will help scientists to follow the progress of such joint projects. Report