EP0126544A2
Expired / Lapsed
EP
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Phenylalanine hydroxylase cDNA clones, their methods of production and use in diagnosing classical phenylketonuria
Assignee: Howard Hughes Medical Institute
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Filing: 1984-04-13
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Granted: —
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Expires: 2004-04-13
Abstract
Abstract Described are phenylalanine hydroxylase cDNA clones, methods of their production, and the use of these clones in the diagnosis of the human genetic disorder, classical phenylketonuria (PKU), a hereditary disorder in phenylalanine metabolism that causes permanent mental retardation in humans, and the identification of heterozygous trait carriers.
Inventors
- 👤 Savio L.C. Woo
- 👤 T. Chandra C/O T. Venkata Varadan Thirumalachary
- 👤 Alan S. Lidsky
- 👤 Kathryn J.H. Nuffield Department Of Robson
Bibliographic Details
Application Number
—
Jurisdiction
EP
Data Source
google_patents
Last Synchronized
2026-11-07 03:42
CPC Classifications
C; C12; C12N; C12N9/00; C12N9/0004; C12N9/0071; C12Q; C12Q1/00; C12Q1/68; C12Q1/6813; C12Q1/6827; C12Q1/683; C12Q1/6876; C12Q1/6883; C12Y; C12Y114/00; C12Y114/16; C12Y114/16001; C12Q2600/00; C12Q2600/156; C12Q2600/172
Claims Analysis
Total Claims: 35
Claim 1
Independent Claim
59 words
A method of synthesizing cDNA clones from phenylalanine hydroxylase mRNA from liver tissue comprising, isolating and purifying phenylalanine hydroxylase from the liver tissue, obtaining and isolating antibodies to the purified phenylalanine hydroxylase, obtaining polysome enriched phenylalanine hydroxylase mRNA by immunoprecipitation of liver polysomes using the antibodies, and enzymatically synthesizing recombinant cDNA clones from the polysome enriched phenylalanine hydroxylase mRNA.
Claim 2
Independent Claim
59 words
A method of synthesizing cDNA clones from phenylalanine hydroxylase mRNA from liver tissue comprising, isolating and purifying phenylalanine hydroxylase from the liver tissue, obtaining and isolating antibodies to the purified phenylalanine hydroxylase, obtaining polysome enriched phenylalanine hydroxylase mRNA by immunoprecipitation of liver polysomes using the antibodies, and enzymatically synthesizing recombinant cDNA clones from the polysome enriched phenylalanine hydroxylase mRNA.
Claim 3
Dependent Claim
13 words
The method of claim 1 where the liver tissue is human liver tissue.
Claim 4
Dependent Claim
13 words
The method of claim 1 where the liver tissue is animal liver tissue.
Claim 5
Dependent Claim
13 words
The method of claim 1 where the liver tissue is rat liver tissue.
Claim 6
Dependent Claim
4 words
Phenylalanine hydroxylase cDNA clone.
Claim 7
Dependent Claim
4 words
Phenylalanine hydroxylase cDNA clone.
Claim 8
Dependent Claim
5 words
Human phenylalanine hydroxylase cDNA clone.
Claim 9
Dependent Claim
5 words
Human phenylalanine hydroxylase cDNA clone.
Claim 10
Dependent Claim
5 words
Animal phenylalanine hydroxylase cDNA clone.
Claim 11
Dependent Claim
5 words
Animal phenylalanine hydroxylase cDNA clone.
Claim 12
Dependent Claim
6 words
Rat liver phenylalanine hydroxylase cDNA clone.
Claim 13
Dependent Claim
6 words
Rat liver phenylalanine hydroxylase cDNA clone.
Claim 14
Dependent Claim
6 words
A labelled phenylalanine hydroxylase cDNA clone.
Claim 15
Dependent Claim
6 words
A labelled phenylalanine hydroxylase cDNA clone.
Claim 16
Dependent Claim
7 words
A labelled hyman phenylalanine hydroxylase cDNA clone.
Claim 17
Dependent Claim
7 words
A labelled hyman phenylalanine hydroxylase cDNA clone.
Claim 18
Dependent Claim
7 words
A labelled animal phenylalanine hydroxylase cDNA clone.
Claim 19
Dependent Claim
7 words
A labelled animal phenylalanine hydroxylase cDNA clone.
Claim 20
Dependent Claim
7 words
A labelled rat phenylalanine hydroxylase cDNA clone.
Claim 21
Dependent Claim
7 words
A labelled rat phenylalanine hydroxylase cDNA clone.
Claim 22
Independent Claim
17 words
A method of diagnosing phenylketonuria prenatally comprising, gene mapping utilizing human phenylalanine hydroxylase cDNA clones as probes.
Claim 23
Independent Claim
17 words
A method of diagnosing phenylketonuria prenatally comprising, gene mapping utilizing human phenylalanine hydroxylase cDNA clones as probes.
Claim 24
Independent Claim
46 words
A method of diagnosing phenylketonuria prenatally comprising, cleaving fetal DNA with enzymes, cleaving available parents' DNA with said enzymes, cleaving DNA from available unaffected siblings with said enzymes, cleaving DNA from available previously affected siblings with said enzymes, and comparing the polymorphism of the cleaved DNAs.
Claim 25
Independent Claim
46 words
A method of diagnosing phenylketonuria prenatally comprising, cleaving fetal DNA with enzymes, cleaving available parents' DNA with said enzymes, cleaving DNA from available unaffected siblings with said enzymes, cleaving DNA from available previously affected siblings with said enzymes, and comparing the polymorphism of the cleaved DNAs.
Claim 26
Independent Claim
80 words
A method of constructing a human cDNA library from which human phenylalanine hydroxylase cDNA clones can be identified and isolated using a corresponding animal phenylalanine hydroxylase cDNA clone by cross-hybridization comprising, synthesizing cDNA clones from the total human liver mRNA, inserting the synthesized cDNA clone into plasmid DNA, introducing the resulting recombinant plasmid DNA into a suitable bacterium-to construct the human liver cDNA library, hybridizing labelled animal cDNA clones with the human livery library cDNA clones, and determining positive signals.
Claim 27
Independent Claim
80 words
A method of constructing a human cDNA library from which human phenylalanine hydroxylase cDNA clones can be identified and isolated using a corresponding animal phenylalanine hydroxylase cDNA clone by cross-hybridization comprising, synthesizing cDNA clones from the total human liver mRNA, inserting the synthesized cDNA clone into plasmid DNA, introducing the resulting recombinant plasmid DNA into a suitable bacterium-to construct the human liver cDNA library, hybridizing labelled animal cDNA clones with the human livery library cDNA clones, and determining positive signals.
Claim 28
Dependent Claim
11 words
E. Coli RR1 (prPH91) having the deposit accession number ATCC 39329.
Claim 29
Dependent Claim
11 words
E. Coli RR1 (prPH91) having the deposit accession number ATCC 39329.
Claim 30
Dependent Claim
11 words
E. Coli RR1 (prPH98) having the deposit accession number ATCC 39330.
Claim 31
Dependent Claim
11 words
E. Coli RR1 (prPH98) having the deposit accession number ATCC 39330.
Claim 32
Dependent Claim
11 words
E. Coli RR1 (phPH72) having the deposit accession number ATCC 39331.
Claim 33
Dependent Claim
11 words
E. Coli RR1 (phPH72) having the deposit accession number ATCC 39331.
Claim 34
Dependent Claim
11 words
E. Coli RR1 (phPH73) having the deposit accession number ATCC 39332.
Claim 35
Dependent Claim
11 words
E. Coli RR1 (phPH73) having the deposit accession number ATCC 39332.
References Cited (Backward Citations)
No citation records indexed.
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