Abstract

(1) By continuing to develop formal human genetics with special regard to linkage we aim: 1.1 To develop and apply multipoint mapping so as to extract information about gene order that may be less efficiently inferred from 2-point tests, or from n-point tests where coincidences are estimated as nuisance parameters. 1.2 To resolve linkage heterogeneity due to incomplete penetrance. 1.3 To develop kinship mapping of genetic systems. (2) By continuing to exploit research opportunities presented by the unique population of Hawaii and a collaborative population cytogenetics program we aim: 2.1 To develop and apply methods for centromere mapping using trisomies and triploids. 2.2 To determine the segregation pattern of structural chromosomal rearrangements, and specifically whether segregation is distorted. 2.3 To determine recurrence risks following a karyotyped abortion. 2.4 To test for holandric inheritance of sex ratio in interracial crosses. (3) By continuing to develop and validate the methods of genetic epidemiology we aim: 3.1 To use combined analysis of segregation, linkage, and association to infer etiology of diseases associated with markers like HLA, especially multiple sclerosis, insulin-dependent diabetes, and coeliac disease. 3.2 To resolve controversy about sex differences in mutation rate, initially for Menke's disease and the fragile-X syndrome and eventually for other sex-linked diseases. 3.3 To test alternative models in real and simulated data. 3.4 To implement distributed computing in genetic epidemiology.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of General Medical Sciences (NIGMS)
Type
Research Project (R01)
Project #
7R01GM036295-01
Application #
3289978
Study Section
Mammalian Genetics Study Section (MGN)
Project Start
1985-09-01
Project End
1990-04-30
Budget Start
1985-09-01
Budget End
1986-04-30
Support Year
1
Fiscal Year
1985
Total Cost
Indirect Cost

  Institution

Name
Sloan-Kettering Institute for Cancer Research
Department
Type
DUNS #
064931884
City
New York
State
NY
Country
United States
Zip Code
10065

  Publications

Neer, E J; Denker, B M; Thomas, T C et al. (1994) Analysis of G-protein alpha and beta gamma subunits by in vitro translation. Methods Enzymol 237:226-39
Schmidt, C J; Zubiaur, M; Valenzuela, D et al. (1994) G(O), a guanine nucleotide binding protein, is expressed during neurite extension in the embryonic mouse. J Neurosci Res 38:182-7
Schmidt, C J; Thomas, T C; Levine, M A et al. (1992) Specificity of G protein beta and gamma subunit interactions. J Biol Chem 267:13807-10
Mortensen, R M; Zubiaur, M; Neer, E J et al. (1991) Embryonic stem cells lacking a functional inhibitory G-protein subunit (alpha i2) produced by gene targeting of both alleles. Proc Natl Acad Sci U S A 88:7036-40
Cui, Z; Zubiaur, M; Bloch, D B et al. (1991) Expression of a G protein subunit, alpha i-1, in Balb/c 3T3 cells leads to agonist-specific changes in growth regulation. J Biol Chem 266:20276-82
Basta, M; Morton, N E; Mulvihill, J J et al. (1990) Inheritance of acute appendicitis: familial aggregation and evidence of polygenic transmission. Am J Hum Genet 46:377-82
Takaesu, N; Jacobs, P A; Cockwell, A et al. (1990) Nondisjunction of chromosome 21. Am J Med Genet Suppl 7:175-81
Kuster, W; Pascoe, L; Purrmann, J et al. (1989) The genetics of Crohn disease: complex segregation analysis of a family study with 265 patients with Crohn disease and 5,387 relatives. Am J Med Genet 32:105-8
Buraczynska, M; Stewart, G D; Sherman, S et al. (1989) Studying nondisjunction of chromosome 21 with cytogenetic markers on the short arm and DNA markers encompassing the long arm. Prog Clin Biol Res 311:101-13
Auerbach, A D; Rogatko, A; Schroeder-Kurth, T M (1989) International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity. Blood 73:391-6

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