Summary
To provide a rationale for gene dosage study of esterase D (EsD) in a case with trisomy 13 where the determination of gene dosage effects is complicated owing to the dimeric structure of EsD and the diversity in catalytic activity between different EsD phenotypes, we assayed red cell EsD activities and analyzed its isozyme patterns using starch gel electrophoresis and isoelectric focusing in five cases with partial trisomy 13 (Cases 1, 2 and 3) and full trisomy 13 (Cases 4 and 5). From mean EsD activities of three common EsD phenotypes (1, 2-1 and 2) in a total of 197 normal individuals, theoretical values of the total EsD activity and activity ratios of respective EsD isozymes were calculated for each genotype expected in a trisomy case. The observed total EsD activities and activity ratios of respective EsD isozymes, which were measured on starch gel zymograms by a spectrophotometric scanner, in the five cases led us to assume that Case 1 had EsD genotype 1-1-1, Case 2 genotype 2-2-1 and the remaining three cases genotype 2-1-1. The interpretations in three cases (Cases 1, 2 and 4) were further justified by the study of EsD phenotype in their parents. Isoelectric focusing, on the other hand, was insufficient to distinguish between genotypes 2-2-1 and 2-2 or between genotypes 2-1-1 and 2-1. These results suggested that the assay of EsD activity along with analysis of EsD isozyme pattern by starch gel electrophoresis is practically the best procedure to identify EsD genotype in a trisomy individual. Furthermore, this procedure proved to be useful to ascertain the parental origin of nondisjunction in some cases with trisomy 13.
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Berg, K., Schwarzfischer, F., and Wischerath, H. 1976. Esterase D polymorphism: description of the “new” alleleEsD 4.Hum. Genet. 32: 81–83.
Bender, K. and Frank, R. 1974. Esterase D—Polymorphismus: Darstellung in der Hochspannungselektrophorese und Mitteilung von Allelhäufigkeiten.Humangenetik 23: 315–318.
Beutler, E. 1975.Red Cell Metabolism: A Manual of Biochemical Methods, 2nd Ed., Grune and Stratton, New York, pp. 8–11.
Caspersson, T., Zech, L., Johansson, C., and Modest, E.J. 1970. Identification of human chromosomes by DNA-binidng fluorescent agents.Chromosoma 30: 215–227.
Harris, H. and Hopkinson, D.A. 1976.Handbook of Enzyme Electrophoresis in Human Genetics, North Holland Publishing Company, Amsterdam.
Hopkinson, D.A., Mestriner, M.A., Cortner, J., and Harris, H. 1973. Esterase D: a new human polymorphism.Ann. Hum. Genet. 37: 119–137.
Horai, S. and Matsunaga, E. 1984. Differential enzyme activities in human esterase D phenotypes.Hum. Genet. 66: 168–170.
Ishikiriyama, S. and Niikawa, N. 1984. Origin of extra chromosome in Patau syndrome.Hum. Genet. 68: 266–268.
Junien, C., Despoisse, S., Turleau, C., Nicolas, H., Picard, F., Le Marec, B., Kaplan, J.C., and Grouchy, J. de. 1982. Retinoblastoma, deletion 13q14, and esterase D: application of gene dosage effect to prenatal diagnosis.Cancer Genet. Cytogenet. 6: 281–287.
Markes, M.P., Jenkins, T., and Nurse, G.T. 1977. The red cell glutamic-pyruvic transaminase, carbonic anhydrase I and II and esterase D polymorphisms in the Ambo populations of South West Africa with evidence for the existence of anEsD 0 allele.Hum. Genet. 37: 49–54.
Martin, W. 1979. Neue Elektrophoresemethoden zur Darstellung von Serum- und Enzympolymorphismen: technische Verbesserungen, Hinweis auf weiteres EsD-Allel.Ärztl. Lab. 25: 65–67.
Nishigaki, I., Itoh, T., and Ogasawara, N. 1983. Quantitative variations in polymorphic types of human red cell esterase D.Ann. Hum. Genet. 47: 187–192.
Oishigaki, I. and Itoh, T. 1984. Isoelectric focusing studies of human red cell esterase D: evidence for polymorphic occurrence of a new alleleEsD 7 in Japanese.Hum. Genet. 66: 92–95.
Oishi, H., Nishigaki, I., Futamura, M., and Takebe, H. 1984. Regional assignment of esterase D locus to human chromosome 13q13»qter.Cytogenet. Cell Genet. 37: 558–559.
Radam, G., Strauch, H., and Martin, W. 1980. Der Phänotype ”Rügen” im Polymorphismus der Esterase D: Hinweis auf die Existenz eines neuen Allels (EsD 6).Blut 40: 337–341.
Rivera, H., Turleau, C., Grouchy, J. de, Junien, C., Despoisse, S., and Zucker, J.M. 1981. Retinoblastoma-del(13q14): report of two patients, one with a trisomic sib due to maternal insertion. Gene-dosage effect for esterase D.Hum. Genet. 59: 211–214.
Sparkes, R.S., Targum, S., Gershon, E., Sensabaugh, G.F., Sparkes, M.C., and Crist, M. 1979. Evidence for a null allele at the esterase D [EC 3.1.1.1] locus.Hum. Genet. 46: 319–323.
Sparkes, R.S., Sparkes, M.C., Wilson, M.G., Towner, J.W., Benedict, W., Murphree, A.L., and Yunis, J.J. 1980. Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14.Science 208: 1042–1044.
Sparkes, R.S., Murphree, A.L., Lingua, R.W., Sparkes, M.C., Field, L.L., Funderburk, S.J., and Benedict, W.F. 1983. Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D.Science 219: 971–973.
Strong, L.C., Riccardi, V.M., Ferrell, R.E., and Sparkes, R.S. 1981. Familial retinoblastoma and chromosome 13 deletion transmittedvia an insertional translocation.Science 213: 1501–1503.
Turleau, C., Grouchy, J. de, Chavin-Colin, F., Despoisses, S., and Leblanc, A. 1983. Two cases of del(13q)-retinoblastoma and two cases of partial trisomy due to a familial insertion.Ann. Genet. 26: 158–160.
Ward, P., Packman, S., Loughman, W., Sparkes, M., Sparkes, R., McMahon, A., Gregory, T., and Ablin, A. 1984. Location of the retinoblastoma susceptibility gene(s) and the human esterase D locus.J. Med. Genet. 21: 92–95.
Yuasa, I., Tamaki, N., Suenaga, K., and Ito, K. 1985. Low voltage isoelectric focusing for phenotypes of esterase D.Jpn. J. Human Genet. (abstract)30: 106.
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Takahashi, Y., Narahara, K. & Kimoto, H. Determination of esterase D (EsD) genotype in cases with trisomy 13. Jap J Human Genet 31, 273–287 (1986). https://doi.org/10.1007/BF01870758
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DOI: https://doi.org/10.1007/BF01870758