US4745060A
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Methods and compositions for the detection of Familial Hypercholesterolemia
Assignee: The University of Texas System
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Filing: 1984-12-28
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Granted: 1988-05-17
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Expires: 2004-12-28
Abstract
Abstract Recombinant DNA transfer vectors containing DNA inserts which are complementary to either the human LDL receptor gene, or its mRNA transcript, are disclosed. Also disclosed are methods which utilize these genetic probes for diagnosing Familial Hypercholesterolemia (FH) in a suspected individual. A case study of one such individual, FH 274, is disclosed wherein the genetic deletion mutation is detailed with great precision through the practice of this invention.
Inventors
- 👤 Michael S. Brown
- 👤 Joseph L. Goldstein
- 👤 David W. Russell
Bibliographic Details
Application Number
—
Jurisdiction
US
Data Source
google_patents
Last Synchronized
2026-11-04 16:32
CPC Classifications
C; C07; C07K; C07K14/00; C07K14/435; C07K14/705; C12; C12Q; C12Q1/00; C12Q1/68; C12Q1/6813; C12Q1/6827; C12Q1/6876; C12Q1/6883; G; G01; G01N; G01N33/00; G01N33/48; G01N33/50; G01N33/53; G01N33/566; G01N33/92; C12Q2600/00; C12Q2600/156; G01N2800/00; G01N2800/04; G01N2800/044; Y; Y10; Y10S; Y10S435/00; Y10S435/803; Y10S436/00; Y10S436/811; Y10S530/00; Y10S530/808; Y10S530/82; Y10S530/825
Claims Analysis
Total Claims: 27
Claim 1
Independent Claim
32 words
A DNA molecule comprising a recombinant DNA vector having a DNA sequence which encodes human LDL receptor protein as defined by the amino acid sequence of FIGS. 3A, 3B, 3C and 3D.
Claim 2
Dependent Claim
32 words
A DNA molecule comprising a recombinant DNA vector having a DNA sequence which encodes human LDL receptor protein as defined by the amino acid sequence of FIGS. 3A, 3B, 3C and 3D.
Claim 3
Dependent Claim
27 words
The DNA molecule of claim 1 wherein the recombinant vector comprises at least the translated region of the cDNA insert of plasmid pLDLR-2, ATCC deposit number 39966.
Claim 4
Dependent Claim
29 words
A substantially purified DNA molecule comprising a DNA sequence which encodes human LDL receptor protein as defined by the amino acid sequence of FIGS. 3A, 3B, 3C and 3D.
Claim 5
Dependent Claim
29 words
A substantially purified DNA molecule comprising a DNA sequence which encodes human LDL receptor protein as defined by the amino acid sequence of FIGS. 3A, 3B, 3C and 3D.
Claim 6
Dependent Claim
31 words
A bacterial strain comprising a recombinant DNA vector which includes the recombinant insert of pLDLR-2, lambda 33-1, lambda 33-2 or lambda h1, ATCC deposit numbers 39966, 40147, 40148 and 40149, respectively.
Claim 7
Dependent Claim
31 words
A bacterial strain comprising a recombinant DNA vector which includes the recombinant insert of pLDLR-2, lambda 33-1, lambda 33-2 or lambda h1, ATCC deposit numbers 39966, 40147, 40148 and 40149, respectively.
Claim 8
Dependent Claim
31 words
A DNA molecule comprising a recombinant DNA vector which includes the recombinant insert of pLDL-2, lambda 33-1, lambda 33-2, or lambda h1, ATCC deposit numbers 39966, 40147, 40148 and 40149, respectively.
Claim 9
Dependent Claim
31 words
A DNA molecule comprising a recombinant DNA vector which includes the recombinant insert of pLDL-2, lambda 33-1, lambda 33-2, or lambda h1, ATCC deposit numbers 39966, 40147, 40148 and 40149, respectively.
Claim 10
Dependent Claim
23 words
A substantially purified DNA molecule consisting of at least a tetradecameric portion of the DNA sequence of FIGS. 3A, 3B, 3C or 3D.
Claim 11
Dependent Claim
23 words
A substantially purified DNA molecule consisting of at least a tetradecameric portion of the DNA sequence of FIGS. 3A, 3B, 3C or 3D.
Claim 12
Dependent Claim
76 words
A substantially purified DNA molecule comprising a DNA sequence which includes at least a tetradecameric portion of the DNA sequence of FIGS. 3A, 3B, 3C or 3D, the DNA molecule being capable of hybridizing to the recombinant insert of pLDLR-2, lambda 33-1, lambda 33-2 or lambda h1, ATCC deposit numbers 39966, 40147, 40148 and 40149, respectively, under stringent hybridization conditions, said conditions including hybridization in the presence of 50% formamide and 5×SSPE at 42 degrees C.
Claim 13
Dependent Claim
76 words
A substantially purified DNA molecule comprising a DNA sequence which includes at least a tetradecameric portion of the DNA sequence of FIGS. 3A, 3B, 3C or 3D, the DNA molecule being capable of hybridizing to the recombinant insert of pLDLR-2, lambda 33-1, lambda 33-2 or lambda h1, ATCC deposit numbers 39966, 40147, 40148 and 40149, respectively, under stringent hybridization conditions, said conditions including hybridization in the presence of 50% formamide and 5×SSPE at 42 degrees C.
Claim 14
Dependent Claim
21 words
The DNA molecule of claim 7 wherein the DNA sequence comprises the cDNA insert of plasmid pLDLR-2, ATCC deposit number 39966.
Claim 15
Dependent Claim
23 words
The DNA molecule of claim 7 wherein the DNA sequence comprises the recombinant DMA insert of bacteriophage lambda 33-1, ATCC deposit number 40147.
Claim 16
Dependent Claim
23 words
The DNA molecule of claim 7 wherein the DNA sequence comprises the recombinant DNA insert of bacteriophage lambda 33-2, ATCC deposit number 40148.
Claim 17
Dependent Claim
23 words
The DNA molecule of claim 7 wherein the DNA sequence comprises the recombinant DNA insert of bacteriophage lambda h1, ATCC deposit number 40149.
Claim 18
Dependent Claim
25 words
The DNA molecule of claim 7 wherein the DNA sequence comprises the translataed region of the cDNA sequence of FIGS. 3A, 3B, 3C or 3D.
Claim 19
Dependent Claim
24 words
The DNA molecule of claim 7 wherein the DNA sequence comprises nucleotides 267 to 1081 of the cDNA sequence of FIGS. 3A and 3B.
Claim 20
Dependent Claim
26 words
The DNA molecule of claim 7 wherein the DNA sequence comprises nucleotides 719 to 2544 of the cDNA sequence of FIGS. 3A, 3B, 3C and 3D.
Claim 21
Dependent Claim
24 words
The DNA molecule of claim 7 wherein the DNA sequence comprises nucleotides 267 to 1078 of the cDNA sequence of FIGS. 3A and 3B.
Claim 22
Dependent Claim
26 words
The DNA molecule of claim 7 wherein the DNA sequence comprises nucleotides 1573 to 3486 of the cDNA sequence of FIGS. 3A, 3B, 3C and 3D.
Claim 23
Dependent Claim
26 words
The DNA molecule of claim 7 wherein the DNA sequence comprises nucleotides 2154 to 2544 of the cDNA sequence of FIGS. 3A, 3B, 3C and 3D.
Claim 24
Dependent Claim
24 words
The DNA molecule of claim 7 wherein the DNA sequence comprises nucleotides 2545 to 3948 of the cDNA sequence of FIGS. 3C and 3D.
Claim 25
Dependent Claim
24 words
The DNA molecule of claim 7 wherein the DNA sequence comprises nucleotides 4508 to 4962 of the cDNA sequence of FIGS. 3C and 3D.
Claim 26
Dependent Claim
26 words
A DNA molecule comprising a recombinant DNA vector having a recombinant DNA insert which includes the DNA molecule of any one of claims 7,6 or 9-19.
Claim 27
Dependent Claim
24 words
A bacterial strain bearing a recombinant DNA vector having a recombinant DNA insert defined by the DNA molecule of any one of claims 6-19.
References Cited (Backward Citations)
USPTO Annuity & Maintenance Windows
| Annuity Stage | Window Opens | Payment Deadline | Surcharge Period Until | Estimated Fee | Status |
|---|---|---|---|---|---|
| 3.5 Years (Year 4) | 1991-05-17 | 1991-11-16 | 1992-05-17 | $2000.00 | Window Closed / Lapsed |
| 7.5 Years (Year 8) | 1995-05-17 | 1995-11-16 | 1996-05-17 | $3760.00 | Window Closed / Lapsed |
| 11.5 Years (Year 12) | 1999-05-17 | 1999-11-16 | 2000-05-17 | $7700.00 | Window Closed / Lapsed |