Abstract

Cytogenetic, cell genetic and recombinant DNA techniques will be employed in obtaining an understanding of fundamental biological principles potentially relevant to mental retardation. Gene mapping, principally of mouse and man, will be carried out to determine general principles regarding gene organization as well as to elucidate in detail the map of specific regions (such as the human X chromosome), especially relevant to mental retardation syndromes. Somatic cell genetic studies will be conducted of selected problems, such as cell fusion and cellular uptake of exogenous DNA, of potential importance to the analysis and management of inherited disorders. DNA studies of the mouse and human X chromosomes will be made in order to study the comparative evolution of various sequences and in order to examine the chemical basis of X-inactivation.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Program Projects (P01)
Project #
5P01HD018658-05
Application #
3096856
Study Section
Mental Retardation Research and Training Committee (HDMR)
Project Start
1983-01-01
Project End
1987-12-31
Budget Start
1987-01-01
Budget End
1987-12-31
Support Year
5
Fiscal Year
1987
Total Cost
Indirect Cost

  Institution

Name
Children's Hospital Boston
Department
Type
DUNS #
076593722
City
Boston
State
MA
Country
United States
Zip Code
02115

  Publications

Wang, J Y; Zhen, D K; Falco, V M et al. (2000) Fetal nucleated erythrocyte recovery: fluorescence activated cell sorting-based positive selection using anti-gamma globin versus magnetic activated cell sorting using anti-CD45 depletion and anti-gamma globin positive selection. Cytometry 39:224-30
Wang, J Y; Zhen, D K; Zilberstein, M E et al. (2000) Non-invasive exclusion of fetal aneuploidy in an at-risk couple with a balanced translocation. Mol Hum Reprod 6:103-6
Sharon, D; Bruns, G A; McGee, T L et al. (2000) X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. Invest Ophthalmol Vis Sci 41:2712-21
Sterpetti, P; Hack, A A; Bashar, M P et al. (1999) Activation of the Lbc Rho exchange factor proto-oncogene by truncation of an extended C terminus that regulates transformation and targeting. Mol Cell Biol 19:1334-45
Bianchi, D W (1999) Fetal cells in the maternal circulation: feasibility for prenatal diagnosis. Br J Haematol 105:574-83
Zheng, Y L; Zhen, D K; Farina, A et al. (1999) Fetal cell identifiers: results of microscope slide-based immunocytochemical studies as a function of gestational age and abnormality. Am J Obstet Gynecol 180:1234-9
Tiller, G E; Warman, M L; Gong, Y et al. (1998) Physical and linkage mapping of the gene for the alpha3 chain of type IX collagen, COL9A3, to human chromosome 20q13.3. Cytogenet Cell Genet 81:205-7
Ott, G; Katzenberger, T; Siebert, R et al. (1998) Chromosomal abnormalities in nodal and extranodal CD30+ anaplastic large cell lymphomas: infrequent detection of the t(2;5) in extranodal lymphomas. Genes Chromosomes Cancer 22:114-21
LaSalle, J M; Ritchie, R J; Glatt, H et al. (1998) Clonal heterogeneity at allelic methylation sites diagnostic for Prader-Willi and Angelman syndromes. Proc Natl Acad Sci U S A 95:1675-80
Zhen, D K; Wang, J Y; Falco, V M et al. (1998) Poly-FISH: a technique of repeated hybridizations that improves cytogenetic analysis of fetal cells in maternal blood. Prenat Diagn 18:1181-5

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