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Human Genome News Archive Edition

Human Genome News, March 1993; 4(6)


University of Michigan Medical Center

(NIH; established 1990)

Francis S. Collins

Francis S. Collins
(313/747-3416, Fax: /936-9353;
University of Michigan Medical Center
Department of Internal Medicine
Division of Medical Genetics
Ann Arbor, MI 48109-0618

Mike Boehnke, David Burke, Jeff Chamberlain, Thomas Gelehrter, David Ginsburg, Thomas Glover, Jerry Gorski, Paula Gregory, Dorene Markel, Miriam Meisler, Paul Meltzer, Walter Panko, Jerry Slightom (Upjohn Company), Anand Swaroop, Jeff Trent


  • Study of genetic diseases by seven research cores through development and use of novel technologies in positional cloning.
  • Advancement and development of genomic technology, especially development of microsatellite markers, microdissection of metaphase chromosomes, FISH mapping, radiation hybrid mapping, genetic mapping, YAC technology, and DNA sequencing; testing these by application to specific genetic disease problems.


  • Identification of families and individuals with genetic diseases, resulting in collection of 550 blood samples, immortalization of 500 cell lines, and investigation of > 200 families with breast cancer.
  • Generation of new microsatellite repeat polymorphisms, including 20 dinucleotide and more than 25 tetranucleotide markers. The latter are from chromosome 17, and many map near the breast cancer locus on 17q.
  • Development of algorithms and software for radiation hybrid mapping, FISH mapping, and estimation of allele frequency based on pedigree data.
  • Construction of radiation hybrid panels and characterization of four somatic cell hybrid lines for the long arm of chromosome 17, and development of large-scale FISH mapping of YAC and cosmid clones.
  • Direct cycled sequencing of PCR products and direct sequence analysis of CA repeats.
  • Screening of 5 to 10 STS markers against 4 YAC libraries each month to complete the chromosome 17 physical map. Production of five different cDNA libraries.
  • Development of methodology in which microdissected material is labeled by PCR and mapped back to metaphase chromosomes.


  • cDNA libraries from human retinal pigment epithelium, retina, kidney, fetal brain, and whole fetus.
  • Microdissection technology and protocols.
  • Chromosome 17 radiation hybrid panel.
  • Four chromosome 17q somatic cell hybrids.
  • Tetranucleotide and dinucleotide markers from chromosome 17.
  • Chromosome 17q YACs. (The center serves as a community screening resource.)
  • Radiation hybrid mapping software (RHMAP).
  • Educational resources for clinicians, genetic counselors, journalists, and high school teachers.

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The electronic form of the newsletter may be cited in the following style:
Human Genome Program, U.S. Department of Energy, Human Genome News (v4n6).

Human Genome Project 1990–2003

The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.

Human Genome News

Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.