Human esterase D, its uses and a process of purification

Chemistry: molecular biology and microbiology – Micro-organism – tissue cell culture or enzyme using process... – Recombinant dna technique included in method of making a...

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435 712, 435 91, 4351723, 43525233, 4353201, 536 27, 530350, 935 18, 935 29, 935 41, 935 48, 935 58, 935 62, 935 73, 935 82, C12P 2106, C12P 2104, C12P 1934, C01N 1500, C12H 1512, C07K 300

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050117734

ABSTRACT:
This invention relates in general to a human esterases and in particular to the human esterase D enzyme and identification of its amino acid sequence, to a human esterase D cDNA and identification of its nucleotide sequence, to localization of the human esterase D gene and identification of its sequence, to specific human esterase D antibodies and to a method of purifying esterase D. The present invention also relates to using the cloned human esterase D cDNA as a genetic marker and a diagnostic tool for retinoblastoma, Wilson's disease and other hereditary or acquired diseases controlled by genes located at the 13 chromosome 13q14 region. The invention further relates to an esterase D cDNA probe for cloning the retinoblastoma gene and to the use of the cloned human esterase cDNA as a prognostic tool for determination of genetic predisposition to retinoblastoma or Wilson's disease and for population screening. Finally, this invention relates to the use of the cloned human esterase D for exploration of the large family of human esterases.

REFERENCES:
Friend, S. H. et al., Nature, vol. 323, pp. 643-646 (1986).
Lalande; M. et al, Canc. Genet. Cytogenet., vol. 13, pp. 283-295 (1984).
Helfman, D. M. et al, Proc. Nat'l Acad. Sci., U.S.A., vol. 80, pp. 31-35 (1983).

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