Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Patent
1989-07-07
1992-05-19
Wax, Robert A.
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
435 91, 4351723, 4352401, 4352523, 43525233, 435259, 4353201, 536 26, 536 27, 536 28, 536 29, 935 9, 935 55, 935 56, 935 58, 935 73, 935 23, 935 24, 935 29, 935 31, C12Q 168, C12P 1934, C12N 106, C07H 1512
Patent
active
051148404
ABSTRACT:
The present invention provides for a method for isolating and partially characterizing the nucleotide sequence for a novel polypeptide chain of human basement membrane (type IV) collagen, referred to as the .alpha.5(IV) polypeptide chain. The invention provides for the use of the identified nucleotide sequence (or DNA fragments thereof) to detect mutations in individual genes specific for the .alpha.5(IV) chain which can, directly or indirectly, produce several human diseases. Moreover, the invention also relates to procedures for determining genetic or acquired disorders of basement membranes using the identified nucleotide sequence (or DNA fragments thereof) of the .alpha.5(IV) polypeptide chain, probes specific to DNA fragments of said nucleotide sequence,or antibodies to the nucleotide sequence or DNA parts thereof. Also, the invention relates to the use of gene fragments generated through amplification from human genomic or cloned DNA for detection and analysis of the gene, such as in detection of mutations.
REFERENCES:
"Complete primary structure of the alpha-1 chain of human basement membrane (type IV) collagen" by Soininen, et al., FEBS Letters, vol. 225, No. 1, 2, pp. 188-194, Dec. 1987.
"The Complete Primary Structure of the alpha-2 chain of Human Type IV Collagen and Comparison with the alpha-1 (IV) Chain" by Hostikka, et al., Journal of Biological Chemistry, vol. 263, No. 36, pp.19488-19493, Dec. 1988.
"Mapping of Alport Syndrome to the Long Arm of the X Chromosome" by Atkin, et al., Am. J. Human. Genet., 42, pp. 249-255, 1988.
"Localization of the Gene for Classic Alport Syndrome" by Flinter, et al., Genomics, 4, pp. 335-338, 1989.
"Alport Familial Nephritis" by Kieppei, et al., J. Clin. Invest., vol. 80, pp. 263-266, Jul. 1987.
"Localization of the Goodpasture Epitope to a Noel Chain of Basement Membrane Collagen" by Butkowski, et al., J. Biol. Chem., vol. 262, pp. 7874-7877, 1987.
"Structure and biological activity of basement membrane proteins", Max Planck-Institut fur Biochemic, Martrtinsried, vol. 180, pp. 487-502, 1989.
Hostikka Sirkka L.
Tryggvason Karl
Wax Robert A.
Zitomer Stephanie N.
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