of genes to hematopoietic stem cells. Transfer of 
human adenosine deaminase (ADA) expression to 
mouse stem cells has been accomplished using 
recombinant retroviral vectors. Experiments have 
been initiated to disrupt the X-encoded cytochrome 
locus in cultured white cells by homologous re- 
combination, in an attempt to explore the potential 
of gene transfer in correction of X-CGD. In addi- 
tion, to evaluate the role of the erythroid nuclear 
factor GF-1, Dr. Orkin and his colleagues are exam- 
ining the feasibility of targeting disruptions or mod- 
ifications of the locus by recombination in cultured 
erythroid cells. Genetically altered, cultured hema- 
topoietic cells may provide valuable reagents w^ith 
which to explore the expression and biosynthesis 
of the superoxide-generating system in white blood 
cells and the control of gene expression in ery- 
throid cells. 
Dr. Orkin is also Leland Fikes Professor of Pedi- 
atric Medicine at Harvard Medical School and 
Children's Hospital, Boston. 
PUBLICATIONS 
Books and Chapters of Books 
Michelson, A.M., and Orkin, S.H. 1989. Prenatal diagnosis by analysis of fetal DNA. In Diseases of the Fetus 
and Newborn (Reed, G.B., Claireaux, A.E., and Bain, A.D. Eds.). London: Chapman & Hall, pp 673-694. 
Orkin, S.H. 1989. Molecular genetics and inherited human disease. In The Metabolic Basis of Inherited Dis- 
ease (Scriver, C.R., Beaudet, A.L. , Sly WS., and Valle, P. , Eds.). New York: McGraw-Hill, pp 165-175. 
Brockdorff, N., Fisher, E.M.C., Orkin, S.H., Lyon, M.F., and Brown, S.D.M. 1988. Localization of the human 
X-linked gene for chronic granulomatous disease to the mouse X chromosome: implications forX-chromo- 
some evolution. Cytogenet Cell Genet 48:124-125. 
de Saint-Basile, G., Bohler, M.C., Fischer, A., Cartron, J., Dufier, J.L., Griscelli, C, and Orkin, S.H. 1988. Xp21 
DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod 
phenotype. Hum Genet 80:85-89. 
Hirschhorn, R., Tzall, S., Ellenbogen, A., and Orkin, S.H. 1989- Identification of a point mutation resulting in 
a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency. / Clin In- 
vest 83:497-501. 
Martin, D.I.K., Tsai, S.-E., and Orkin, S.H. 1989. Increased -y-globin expression in a nondeletion HPFH medi- 
ated by an erythroid-specific DNA-binding factor. Nature 338:435-438. 
Orkin, S.H. 1989. Molecular genetics of chronic granulomatous disease. Annu Rev Immunol 7:277-307. 
Orkin, S.H. 1989. X-linked chronic granulomatous disease: more than two years later. Mol Biol Med 6:1-5. 
Parkos, C.A., Dinauer, M.C., Jesaitis, A.J., Orkin, S.H. , and Curnutte, J.T. 1989. Absence of both the 91kD and 
22kD subunits of human neutrophil cytochrome b in two genetic forms of chronic granulomatous dis- 
ease. 73: 1416-1420. 
Tsai, S.-F. , Martin, D.I.K. , Zon, L.I., D'Andrea, A.D., Wong, G.G., and Orkin, S.H. 1989. Cloning of cDNA for 
the major DNA-binding protein of the erythroid lineage through expression in mammalian cells. Nature 
339:446-451. 
Wong, C, Antonarakis, S.E., Goff, S.C., Orkin, S.H. , Forget, B.G., Nathan, D.G., Giardina, P.J.V, and Kazazian, 
H.H., Jr. 1989. 3-Thalassemia due to two novel nucleotide substitutions in consensus acceptor splice se- 
quences of the P-globin gene. Blood 73:914-918. 
Articles 
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