Abstract

We propose to develop informative, multi-allelic genetic marker loci in the human for the purpose of constructing a linkage map and, ultimately, for the stusy and diagnosis of human genetic disease. Our marker system is based on DNA sequence polymorphisms which are detected by recombinant DNA probes which define specific loci and restriction enzymes which sample DNA sequence. We will construct an archival resource comprised of DNA and cell lines from a large number of individuals from within a single large MOrmon pedigree. Genotypes will be determined by pedigree analysis.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of General Medical Sciences (NIGMS)
Type
Research Project (R01)
Project #
5R01GM029789-05
Application #
3277437
Study Section
Mammalian Genetics Study Section (MGN)
Project Start
1981-01-01
Project End
1987-12-31
Budget Start
1985-01-01
Budget End
1985-12-31
Support Year
5
Fiscal Year
1985
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

Setlik, R F; Shibata, M; Sarma, R H et al. (1995) Modeling of a possible conformational change associated with the catalytic mechanism in the hammerhead ribozyme. J Biomol Struct Dyn 13:515-22
Sarma, R H; Sarma, M H; Rein, R et al. (1995) Secondary structure in solution of two anti-HIV-1 hammerhead ribozymes as investigated by two-dimensional 1H 500 MHz NMR spectroscopy in water. FEBS Lett 357:317-23
Wolff, R K; Nakamura, Y; White, R (1988) Molecular characterization of a spontaneously generated new allele at a VNTR locus: no exchange of flanking DNA sequence. Genomics 3:347-51
Silva, A J; White, R (1988) Inheritance of allelic blueprints for methylation patterns. Cell 54:145-52
Silva, A J; Johnson, J P; White, R L (1987) Characterization of a highly polymorphic region 5' to JH in the human immunoglobulin heavy chain. Nucleic Acids Res 15:3845-57
Damoder, R; Klimov, V V; Dismukes, G C (1986) The effect of Cl- depletion and X- reconstitution on the oxygen-evolution rate, the yield of the multiline manganese EPR signal and EPR signal II in the isolated Photosystem-II complex. Biochim Biophys Acta 848:378-91
Sarma, M H; Gupta, G; Sarma, R H (1985) Structure of poly(dA).poly(dT) is not identical to the AT rich regions of the single crystal structure of CGCGAATTBrCGCG. The consequence of this to netropsin binding to poly(dA).poly(dT). J Biomol Struct Dyn 3:433-6
Oberle, I; Drayna, D; Camerino, G et al. (1985) The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proc Natl Acad Sci U S A 82:2824-8