Norman Arnheim

 Ph.D.

Professor
Professor Thester Dornsife Chair in Biological Sciences

College of Letters, Arts and Sciences
Department of Molecular Biology

Dr. Arnheim is using single sperm PCR analysis to study the patterns of mutational change that occur at loci containing repeated DNA sequences in mammals. Among these diseases are spinal cerebellar ataxia, fragile X syndrome, myotonic dystrophy and Huntington’s disease. In every case the presence of the disease is associated with expansions in the number of repeats over that found in normal population. By studying sperm from normal individuals and patients with these diseases we can estimate the mutation frequency of trinucleotide repeat expansion and determine the size distribution of these mutations. He is also interested in understanding the factors which determine why some mammalian chromosome regions undergo genetic recombination at a much higher frequency than others. He is trying to isolate genes coding for proteins that may be involved in recombination in mice. Drs. Arnheim and Goodman are collaborators on several of these studies.

 

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