Patrick Bender

A simple and cost effective method for rapid genotyping of insertion/deletion polymorphisms

We developed a simple method, based on the TaqMan technology, for fast genotyping of insertion/deletion polymorphisms of known location. The genotypes of 22 CEPH individuals, previously ascertained by conventional methods, were confirmed in the new assay without manual, time-consuming, post-PCR analysis. We propose to expand the application of TaqMan probes for population screening of insertion/deletion polymorphisms in which the exact endpoints of the insertion/deletion are known. The method can be applied to polymorphisms of any size and can be used for different applications such as diagnostics, genome variation, and species identification.

Brief Communication: Regional Mapping Panels for Human Chromosomes 1, 2, and 7

The NIGMS Human Genetic Cell Repository has assembled regional mapping panels for human chromosomes 1, 2, and 7 from human rodent somatic cell hybrids submitted to the collection by researchers from 14 different laboratories. All hybrids were characterized initially by the submitters and verified by the Repository. Each hybrid carries a stable defined human segment as a derivative or deletion chromosome. These panels define 8–10 intervals for each chromosome. The panel for chromosome 2 is a new resource. The panels for chromosomes 1 and 7 complement previously published panels. The Repository distributes these regional mapping panels as cell cultures or as DNA. Information about these panels as well as for panels for chromosomes 3, 4, 5, 6, 8, 9, 10, 11, 12, 13, 15, 16, 17, 18, 21, 22, and X may be viewed in the NIGMS Repository electronic catalog (http://locus.umdnj.edu/ptnigms).