Recommendations for locus-specific databases and their curation.

Expert curation and complete collection of mutations in genes that affect human health is essential for proper genetic healthcare and research. Expert curation is given by the curators of gene-specific mutation databases or locus-specific databases (LSDBs). While there are over 700 such databases, they vary in their content, completeness, time available for curation, and the expertise of the curator. Curation and LSDBs have been discussed, written about, and protocols have been provided for over 10 years, but there have been no formal recommendations for the ideal form of these entities. This work initiates a discussion on this topic to assist future efforts in human genetics. Further discussion is welcome

A rapid procedure for extracting genomic DNA from leukocytes

We have developed a rapid procedure based on standard protocols to isolate DNA from leukocytes. The procedure yields 100 µg to 150 µg from 5 ml of blood. The DNA produced is of good quality (fig. 1) and is suitable for restriction enzyme digestion or PCR amplification