Lynn B. Jorde, Ph.D.
Professor, Department of Human Genetics
2100 EIHG
CAMPUS
(801) 581-4566
Email: lbj@genetics.utah.edu
Dr. Jorde's Lab
Read more about Dr. Jorde
During the past year, our laboratory has begun a study of human genetic variation in which 300 subjects have been assayed for 250,000 DNA variants, using a DNA chip method. In a collaboration with the Sorenson Molecular Geneaology Foundation, these data will be combined with a chip assay on an additional 300 individuals sampled worldwide by the Foundation. This will form the basis for the most comprehensive assessment of worldwide genetic diversity to date. This information will have important implications for designing case-control studies of genetic diseases and for designing forensic DNA databases.
We have developed a new laboratory assay for measuring levels of plasma angiotensinogen, as part of an NIH-funded study of the genetics of high blood pressure. We have completed this assay on 500 Utah family members, and we are now evaluating the correlation between variation at the angiotensinogen gene, plasma angiotensinogen levels, and blood pressure.
Last year, we published a paper in Nature Genetics that reported the identification of mutations in the embryonic myosin heavy chain gene (MYH3) as the cause of Freeman-Sheldon and Sheldon-Hall syndromes. These are both serious inherited limb malformation syndromes. We also demonstrated that a new mutation in the fibroblast growth factor receptor 3 gene (FHFR3) is the cause of a new syndrome that involves limb defects, tall stature, and hearing loss. This mutation causes a decrease in the activity of this receptor. Interestingly, mutations with the opposite effect (increased acitvity) result in achondroplasia, a classis reduced stature condition.