Summary
A gene dosage effect was observed for esterase D in a patient with trisomy 13. Isoelectric focusing of hemoglobin from the same patient showed three unidentified bands. A gene dosage effect for several other enzymes was not observed in two other patients with trisomy 13.
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Bard, H.: Postnatal fetal and adult hemoglobin synthesis in D-1 trisomy syndrome. Blood 40, 523–527 (1972)
Chen, S., Creagan, R. P., Nichols, E. A., Ruddle, F. H.: Assignment of human esterase D to chromosome 13. Rotterdam Conference (1974): Second International Workshop on Human Gene Mapping. Birth Defects 3, 99–102 (1975)
Cote, G. B., Edwards, J. H.: Genetic markers in trisomies 13 and 18. Ann. Hum. Genet. 39, 335–337 (1976)
Hall, B., Dahlqvist, A.: Enzyme activity in D trisomies. Lancet 1971 II, 934
Hopkinson, D. A., Mestriner, M. A., Cortner, J., Harris, H.: Esterase D: A new human polymorphism. Ann. Hum. Genet. 37, 119–137 (1973)
Huehns, E. R., Hecht, F., Keil, J. V., Motulsky, A. G.: Developmental hemoglobin anomalies in a chromosomal triplication: D-1 trisomy syndrome. Proc. Nat. Acad. Sci. USA 51, 89–97 (1964)
Jensen, M., Murken, J.-D.: Hemoglobin chain synthesis in two children with trisomy 13. Evidence for temporary imbalance during switch from gamma to beta chain synthesis. Eur. J. Pediatr. 122, 151–157 (1976)
Krishnamoorthy, R., Wajcman, H., Labie, D.: Isoelectrofocusing: A method of multiple applications for hemoglobin studies. Clin. Chim. Acta 69, 203–209 (1976)
Mohandas, T., Sparkes, R. S., Sparkes, M. C., Shulkin, J. D.: Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9: Studies with Chinese hamsterhuman somatic cell hybrids. Proc. Nat. Acad. Sci. USA 74, 5628–5631 (1977)
Monte, M., Beuzard, Y., Rosa, J.: Mapping of several abnormal hemoglobins by horizontal polyacrylamide gel isoelectric focusing. Am. J. Clin. Pathol. 66, 753–759 (1976)
Nadler, H. L., Inouye, T., Hsia, D. Y.-Y.: Enzymes in cultivated human fibroblasts derived from patients with autosomal trisomy syndromes. Am. J. Hum. Genet. 19, 94–99 (1967)
Powars, D., Rohde, R., Graves, D.: Foetal haemoglobin and neutrophil anomaly in the D-1 trisomy. Lancet 1964I, 1363–1364
Sparkes, R. S., Targum, S., Gershon, E., Sensabaugh, G. F., Sparkes, M. C., Crist, M.: Evidence for a null allele at the esterase D (EC 3.1.1.1) locus. Hum. Genet. 46, 319–323 (1979)
Van Heyningen, V., Bobrow, M., Bodmer, W. F., Gardiner, S. E., Povey, S., Hopkinson, D. A.: Chromosome assignment of some human enzyme loci: mitochondrial malate dehydrogenase to 7, mannosephosphate isomerase and pyruvate kinase to 15 and probably esterase D to 13. Ann. Hum. Genet. 38, 295–303 (1975)
Wilson, M. G., Schroeder, W. A., Graves, D. A., Kach, V. D.: Hemoglobin variations in D-trisomy syndrome. N. Engl. J. Med. 277, 953–958 (1967)
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Sparkes, R.S., Sparkes, M.C. & Crist, M. Expression of esterase D and other gene markers in trisomy 13. Hum Genet 52, 179–183 (1979). https://doi.org/10.1007/BF00271571
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DOI: https://doi.org/10.1007/BF00271571