The Research Roundup provides an overview of the past week’s research from Mayo Medical Laboratories consultants, including featured abstracts and complete list of published studies and reviews.
Single-nucleotide polymorphism (SNP) microarrays can easily identify whole-chromosome isodisomy but are unable to detect whole-chromosome heterodisomy. However, most cases of uniparental disomy involve combinations of heterodisomy and isodisomy, visualized on SNP microarrays as long continuous stretches of homozygosity (LCSH). LCSH raise suspicion for, but are not diagnostic of, uniparental disomy, and reporting necessitates confirmatory testing. The goal of this study was to define optimal LCSH reporting standards. Of the cases, 27 of 84 with uniparental disomy had no significant LCSH on the involved chromosome. Fifty uniparental disomy-positive samples had LCSH of varying sizes: the average size of terminal LCSH was 11.0 megabases while the average size of interstitial LCSH was 24.1 megabases. LCSH in the normal population tended to be much smaller (average 4.3 megabases) and almost exclusively interstitial; however, overlap between the populations was noted. Mayo Clinic researchers hope that this work will aid clinical laboratories in the recognition and reporting of LCSH. The study was published in Genetics in Medicine.