other single-amino acid substitution in one allele. 
This mutation was confirmed by analysis of geno- 
mic DNA, produced in vitro and expressed tran- 
siently in COS cells. No LPL activity was detected ei- 
ther in medium or in cell extracts, and results of 
immunoassay are pending; therefore no conclusion 
can yet be made about the significance of the muta- 
tion in this patient. 
These findings have spawned a particular interest 
PUBLICATIONS 
in the molecular genetics of LPL. Analysis of the LPL 
gene has been initiated in a series of patients to 
identify new mutations, test their functional signifi- 
cance after transient expression, and use these nat- 
urally occurring events to investigate the structure 
and function of this enzyme. 
Dr. Lalouel is also Professor of Human Genetics 
at the University of Utah School of Medicine. 
Books and Chapters of Books 
White, R., and Lalouel, J. -M. 1989. Genetic markers in medicine. In The Molecular Basis of Inherited Disease 
(Scriver, C.R., Beaudet, A.L. , Sly WS., and Valle, P. , Eds.). New York: McGraw-Hill, pp 277-290. 
Articles 
Byerley W, O'Connell, P , Lalouel, J.-M. , Mellon, C, Nakamura, Y, Leppert, M., and White, R. 1989. Mapping 
genes for manic-depression and schizophrenia with DNA markers. Trends Neurosci 12:46-48. 
Demenais, K, Lathrop, G.M., and Lalouel, J.-M. 1988. Detection of linkage between a quantitative trait and a 
marker locus by the lod score method: sample size and sampling considerations. Ann Hum Genet 52:237- 
246. 
Drayna, D.T, Hegele, R.A. , Hass, PE., Emi, M. , Wu, L.L., Eaton, D.L., Lawn, R.M., Williams, R.R., White, R.L. , 
and Lalouel, J.-M. 1988. Genetic linkage between lipoprotein(a) phenotype and a DNA polymorphism in 
the plasminogen gene. Genomics 3:230-236. 
Emi, M. , Wu, L.L., Robertson, M.A. , Myers, R.L. , Hegele, R.A. , Williams, R.R. , White, R. , and Lalouel, J.-M. 
1988. Genotyping and sequence analysis of apolipoprotein E isoforms. Genomics 3:373-379. 
Hegele, R. , Emi, M. , Wu, L. , Hopkins, R, Williams, R., and Lalouel, J.-M. 1989. Clinical application of DNA 
markers in a Utah family with hypercholesterolemia. Am J Cardiol 63:109-111. 
Julier, C , Lathrop, M. , Reghis, A., Szajnert, M.-F., Lalouel, J.-M., and Kaplan, J.-C. 1988. A linkage and physical 
map of chromosome 22 and some applications to gene mapping. Am J Hum Genet 42:297-308. 
Keats, B.J., Conneally PM., and Lalouel, J.-M. 1988. Report of the committee on linkage and gene order. 
Cytogenet Cell Genet 43:339- 343^ 
Lathrop, M. , Nakamura, Y , O'Connell, P , Leppert, M. , Woodward, S. , Lalouel, J.-M. , and White, R. 1988. 
A mapped set of genetic markers for human chromosome 9. Genomics 3:361-366. 
Ledbetter, D., Rich, D., O'Connell, P, Leppert, M., and Carey, J. 1989. Precise localization of NFl to 17qll.2 
by balanced translocation. Am J Hum Genet 44:20-24. 
Leppert, M. , Anderson, VE., Quattlebaum, T, StaufFer, D. , O'Connell, P , Nakamura, Y , Lalouel, J.-M. , and 
White, R. 1989. Benign familial neonatal convulsions linked to genetic markers on chromosome 20. 
Nature 5^1 -.647-64%. 
Leppert, M., Breslow, J.L., Wu, L, Hasstedt, S., O'Connell, P, Lathrop, M., Williams, R.R., White, R. , and 
Lalouel, J.-M. 1988. Inference of a molecular defect of apolipoprotein B in hypobetalipoproteinemia by 
linkage analysis in a large kindred./ Clin Invest 82:847-851. 
Lothe, R.A., Fossa, S.D., Stenwig, A.E., Nakamura, Y , White, R. , Borresen, A.-L., and Brogger, A. 1989. Loss of 
3p or lip alleles is associated with testicular cancer tumors. Genomics 5:134-138. 
Lothe, R., Nakamura, Y , Woodward, S. , Gedde-Dahl, T, and White, R. 1988. VNTR markers show loss of 
alleles on chromosome 17 and others in human colorectal carcinomas. Cytogenet Cell Genet 48: 167-169. 
Continued 
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