Abstract

Over the past five years there has been a revolution in human genetics. The number of polymorphic markers available for linkage studies has risen dramatically from the 20-30 previously available to several hundred. These new markers have all been generated using recombinant DNA technology. the DNA markers have made it feasible to begin construction of a complete linkage map of the human genome. We are contributing to this effort by typing DNA markers in large reference pedigrees which are ideally structured to obtain a maximum of information on marker-marker linkages. The development of a human genetic linkage map will facilitate tremendously the localization of human genetic disease genes. It will also contribute significantly to improved diagnosis in these diseases and provide new avenues of investigation into the primary defects in many disorders. In the process of building the chromosomal linkage maps we expect to gain considerable information on basic genetic mechanisms in humans and to relate these to potential use of genetic linkage markers in diagnostic testing.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Research Project (R01)
Project #
5R01NS020012-05
Application #
3400173
Study Section
Mammalian Genetics Study Section (MGN)
Project Start
1983-07-01
Project End
1990-06-30
Budget Start
1987-07-01
Budget End
1988-06-30
Support Year
5
Fiscal Year
1987
Total Cost
Indirect Cost

  Institution

Name
Massachusetts General Hospital
Department
Type
DUNS #
City
Boston
State
MA
Country
United States
Zip Code
02199

  Publications

Tzall, S; Martiniuk, F; Ozelius, L et al. (1991) Further characterization of PstI RFLPs at the acid alpha glucosidase (GAA) locus. Nucleic Acids Res 19:1727
Allitto, B A; MacDonald, M E; Bucan, M et al. (1991) Increased recombination adjacent to the Huntington disease-linked D4S10 marker. Genomics 9:104-12
Fontaine, B; Rouleau, G A; Seizinger, B R et al. (1991) Molecular genetics of neurofibromatosis 2 and related tumors (acoustic neuroma and meningioma). Ann N Y Acad Sci 615:338-43
Haines, J L; Amos, J; Attwood, J et al. (1991) Genetic heterogeneity in tuberous sclerosis. Study of a large collaborative dataset. Ann N Y Acad Sci 615:256-64
Fontaine, B; Sanson, M; Delattre, O et al. (1991) Parental origin of chromosome 22 loss in sporadic and NF2 neuromas. Genomics 10:280-3
Whaley, W L; Bates, G P; Novelletto, A et al. (1991) Mapping of cosmid clones in Huntington's disease region of chromosome 4. Somat Cell Mol Genet 17:83-91
Siddique, T; Figlewicz, D A; Pericak-Vance, M A et al. (1991) Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med 324:1381-4
Fontaine, B; Hanson, M P; VonSattel, J P et al. (1991) Loss of chromosome 22 alleles in human sporadic spinal schwannomas. Ann Neurol 29:183-6
Brown Jr, R H; Horvitz, H R; Rouleau, G A et al. (1991) Gene linkage in familial amyotrophic lateral sclerosis: a progress report. Adv Neurol 56:215-26
Ramesh, V; Gusella, J F; Shih, V E (1991) Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency. Mol Biol Med 8:81-93

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