Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Patent
1988-10-31
1993-06-08
Moskowitz, Margaret
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
435 693, 435 91, 4351721, 4351723, 435810, 435975, 514 44, 436501, 436811, 536 232, 536 2431, 536 2433, 935 6, 935 17, 935 78, 935 88, C12Q 168
Patent
active
052178650
ABSTRACT:
Methods are disclosed of detecting mutations in the alpha chain gene that makes pre-natal diagnosis of Tay-Sachs disease possible. Screening for carrier heterozygotes of Tay-Sachs is made feasible by this invention.
REFERENCES:
Arpaia et al., "Identification of an altered . . . ", vol. 333, May 5, 1988 pp. 85-86, Nature.
Mullis et al., "Specific Synthesis of DNA . . . ", Methods in Enz., vol. 155, pp. 335-350, (1987).
Saiki et al, "Enzymatic Amplification of .beta.-Globin . . . ", Science, vol. 230, pp. 1350-1354 (1985).
Myerowitz et al., "Human .beta.-hexosaminidase .alpha. chain: . . . " PNAS, vol. 82 pp. 7830-7834, 1985.
Korneluk et al., "Isolation of cDNA clones . . . ", vol. 261, No. 18 (1986) (Jun. 25) pp. 8407-8413, J. of Biol. Chem.
Myerowitz et al., "cDNA clone for the .alpha.-chain . . . " PNAS vol. 81, pp. 5394-5398 (1984).
Myerowitz et al., "The Major Defect in Ashkenazi . . . ", The Journal of Biol. Chem., vol. 263, No. 35, pp. 18581-18589 (Dec. 15, 1988).
Ohno et al., "Molecular Genetic Heterogeneity in .beta..sub.]Hex . . . ", vol. 22 (supplement), Neuroscience, pp. 5104 (1987).
Nakano et al., "A Point Mutation in the Coding Sequence . . . ", Journal of Neurochemistry, vol. 51 No. 3, 1988 (984-987).
Myerowitz et al., "Different Mutations in Ashkenazi . . . ", Science, vol. 232 pp. 1646-1648 (1986).
Ohno et al., "Classical Tay-Sachs Disease . . . ", J. Neurochem, vol. 48 (suppl) (p. 56) (1987).
Ohno et al, "Multiple Abnormal .beta.-Hex . . . ", J. of Biol Chem, vol. 263, No. 34 (Dec. 5, 1988).
Andermann et al. in Tay-Sachs Disease: Screening and Prevention (publ. Alan R. Liss Inc., New York, N.Y., 1977) pp. 161-187.
Myerowitz (1988) Proc. Natl. Acad Sci (USA), vol. 85, pp. 3955-3959.
Ohno et al. (1988) Biochem. and Biophys. Res. Comm., vol. 153, No. 1, pp. 463-469.
Marschel Ardin H.
Moskowitz Margaret
The United States of America as represented by the Department of
LandOfFree
Screening for Tay-Sachs disease with cloned DNA for beta-hexosam does not yet have a rating. At this time, there are no reviews or comments for this patent.
If you have personal experience with Screening for Tay-Sachs disease with cloned DNA for beta-hexosam, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Screening for Tay-Sachs disease with cloned DNA for beta-hexosam will most certainly appreciate the feedback.
Profile ID: LFUS-PAI-O-1933246