Abstract

The Utah Center for Human Genome Research builds on existing strengths to cultivate a comprehensive approach, addressing crucial technology development problems ranging from fast DNA sequencing methods to the location of genetic markers on human chromosomes. The basic DNA sequencing technologies become the core technology for two distinct applications: capture of continuous DNA sequence from a series of target genome regions and development and mapping of genetic linkage markers, used to precisely map human genes involved in disease. To create the special blend of molecular biology and engineering that is essential for this goal oriented project, talents from many parts of the U. of Utah have been drawn into an interactive group. Substantial emphasis on development and implementation of informatics systems reflects our experience and judgment of the importance of this component in large scale data acquisition enterprises. In each area pilot application projects will test the scaling properties of the technologies. We identify a further important goal of providing access to the new technologies, initially specifying a laboratory to provide access to linkage technology.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Center Core Grants (P30)
Project #
5P30HG000199-02
Application #
3103185
Study Section
Special Emphasis Panel (SRC (C3))
Project Start
1991-02-01
Project End
1996-01-31
Budget Start
1992-04-15
Budget End
1993-01-31
Support Year
2
Fiscal Year
1992
Total Cost
Indirect Cost

  Institution

Name
University of Utah
Department
Type
Schools of Medicine
DUNS #
City
Salt Lake City
State
UT
Country
United States
Zip Code
84112

  Publications

Park, Sang-Ryoul; Swerdlow, Harold (2003) Concentration of DNA in a flowing stream for high-sensitivity capillary electrophoresis. Anal Chem 75:4467-74
Elbein, S C; Hoffman, M D; Teng, K et al. (1999) A genome-wide search for type 2 diabetes susceptibility genes in Utah Caucasians. Diabetes 48:1175-82
O'Quinn, J R; Hennekam, R C; Jorde, L B et al. (1998) Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. Am J Hum Genet 62:130-5
Xiong, Y; Park, S R; Swerdlow, H (1998) Base stacking: pH-mediated on-column sample concentration for capillary DNA sequencing. Anal Chem 70:3605-11
Gouw, L G; Castaneda, M A; McKenna, C K et al. (1998) Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. Hum Mol Genet 7:525-32
Elbein, S C; Hoffman, M D; Mayorga, R A et al. (1997) Do non-insulin-dependent diabetes mellitus (NIDDM) and insulin-dependent diabetes mellitus (IDDM) share genetic susceptibility loci? An analysis of putative IDDM susceptibility regions in familial NIDDM. Metabolism 46:48-52
Swerdlow, H; Jones, B J; Wittwer, C T (1997) Fully automated DNA reaction and analysis in a fluidic capillary instrument. Anal Chem 69:848-55
Bamshad, M; Lin, R C; Law, D J et al. (1997) Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat Genet 16:311-5
Bamshad, M; Bohnsack, J F; Jorde, L B et al. (1996) Distal arthrogryposis type 1: clinical analysis of a large kindred. Am J Med Genet 65:282-5
McCright, B; Brothman, A R; Virshup, D M (1996) Assignment of human protein phosphatase 2A regulatory subunit genes b56alpha, b56beta, b56gamma, b56delta, and b56epsilon (PPP2R5A-PPP2R5E), highly expressed in muscle and brain, to chromosome regions 1q41, 11q12, 3p21, 6p21.1, and 7p11.2 --> p12. Genomics 36:168-70

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