Abstract
in Mendelian diseases identified in the native Moroccan population, or in patients from Moroccan origin living abroad. Polymorphisms, but not microsatellite markers, which had been investigated in samples associated with specific phenotypes or diseases are also included. The resources of mutations are Pubmed (http://www.ncbi.nlm. nih.gov/pubmed/) and other online databases, scientific meetings, and unpublished data directly submitted to the database. MoHuMuDa is a user-friendly tool, hosted in the site of the National Institute of Health (Rabat, Morocco). On the Home Page, the users are informed on the latest changes, the number of entries from different countries in the database, and the number of genetic diseases and mutations listed. From the Home Page, they can access the different parts of the database by using shortcut links to the column “search” by disease index, using the first letter of the disease name. Diseases are categorized alphabetically (Online Mendelian Inheritance in Man OMIM names, accessible at http:// www.ncbi.nlm.nih.gov/omim/), with all reported mutations for each gene stated in the same page. For each mutation disease, a specific table precises the name of the gene, the OMIM number of the disease, the published DNA, and amino-acid change, the proper nomenclature, the number of chromosomes, the frequency of the mutation, and the source of the data. The Home Page also gives access to the column “links” that lists numerous relevant addresses including the National Center for Biotechnology Information (NCBI), the Human Genome Organization, Genetic Alliance and links for some Moroccan structures and patients’ associations. There is also a column for submission which can be used to send mutation data to the database curator. From the section
Highlights
The mutation spectrum observed for any gene or disorder often varies between population groups
It is devoted to the collection of reported human mutations in Mendelian diseases identified in the native Moroccan population, or in patients from Moroccan origin living abroad
Polymorphisms, but not microsatellite markers, which had been investigated in samples associated with specific phenotypes or diseases are included
Summary
The mutation spectrum observed for any gene or disorder often varies between population groups. It is devoted to the collection of reported human mutations in Mendelian diseases identified in the native Moroccan population, or in patients from Moroccan origin living abroad. Polymorphisms, but not microsatellite markers, which had been investigated in samples associated with specific phenotypes or diseases are included.
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