Abstract

We propose to construct framework genetic linkage maps for human chromosomes 2, 6, 7, 8, 12, and 14. The maps will consist of markers for DNA sequence polymorphism with minimum heterozygosities of 70% and marker spacing, in general, of no more than 1 0% recombination. Slightly higher recombination intervals will be allowed provided marker informativeness is considerably higher than 70%. Initial maps (male, female, and sex average) will be constructed from CEPH reference pedigree genotypes using the linkage analysis program package CRI-MAP and these will serve as the basis for determining regions requiring probe development. CA repeat polymorphisms will be the main type of new markers to be identified and characterized. Semiautomated image analysis programs will be developed as an aid to genotype analysis for CA polymorphisms. Initial sets of candidate index markers from each chromosome are proposed for study. A novel approach to test the feasibility of bi-allelic markers and automated genotyping assays is proposed for chromosome 14 mapping in conjunction with more traditional approaches.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Research Project (R01)
Project #
5R01HG000469-02
Application #
3333656
Study Section
Genome Research Review Committee (GRRC)
Project Start
1991-04-01
Project End
1994-03-31
Budget Start
1992-05-08
Budget End
1993-03-31
Support Year
2
Fiscal Year
1992
Total Cost
Indirect Cost

  Institution

Name
Washington University
Department
Type
Schools of Medicine
DUNS #
062761671
City
Saint Louis
State
MO
Country
United States
Zip Code
63130

  Publications

Urban, Z; Michels, V V; Thibodeau, S N et al. (1999) Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. Hum Genet 104:135-42
Wang, J C; Radford, D M; Holt, M S et al. (1999) Sequence-ready contig for the 1.4-cM ductal carcinoma in situ loss of heterozygosity region on chromosome 8p22-p23. Genomics 60:1-11
Morton, S M; Veile, R A; Helms, C et al. (1997) Subregional localization of 21 chromosome 7-specific expressed sequence tags (ESTs) by FISH using newly identified YACs and P1s. Genomics 46:491-4
Phillips, N J; Ziegler, M R; Radford, D M et al. (1996) Allelic deletion on chromosome 17p13.3 in early ovarian cancer. Cancer Res 56:606-11
Urban, Z; Helms, C; Fekete, G et al. (1996) 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am J Hum Genet 59:958-62
Radford, D M; Fair, K L; Phillips, N J et al. (1995) Allelotyping of ductal carcinoma in situ of the breast: deletion of loci on 8p, 13q, 16q, 17p and 17q. Cancer Res 55:3399-405
Radford, D M; Phillips, N J; Fair, K L et al. (1995) Allelic loss and the progression of breast cancer. Cancer Res 55:5180-3
Cox, S; Bryant, S P; Collins, A et al. (1995) Integrated genetic map of human chromosome 2. Ann Hum Genet 59:413-34
Hing, A V; Helms, C; Slaugh, R et al. (1995) Linkage of preaxial polydactyly type 2 to 7q36. Am J Med Genet 58:128-35
Kitamoto, Y; Veile, R A; Donis-Keller, H et al. (1995) cDNA sequence and chromosomal localization of human enterokinase, the proteolytic activator of trypsinogen. Biochemistry 34:4562-8

Showing the most recent 10 out of 19 publications