Patent US5998141A successfully refreshed from Google Patents.
US5998141A
Expired / Lapsed
US
⏱️ 0.0 years remaining
Intronic and polymorphic SR-BI nucleic acids and uses therefor
Assignee: Millennium Pharmaceuticals Inc
•
Filing: 1997-07-10
•
Granted: 1999-12-07
•
Expires: 2017-07-10
Abstract
Abstract The present invention is based at least in part on the discovery of the genomic structure of the human SR-BI gene and on the identification of polymorphic regions within the gene. Accordingly, the invention provides nucleic acids having a nucleotide sequence of an allelic variant of an SR-BI gene and nucleic acids having an SR-BI intronic sequence. The invention also provides methods for identifying specific alleles of polymorphic regions of an SR-BI gene, methods for determining whether a subject has or is at risk of developing a disease which is associated with a specific allele of a polymorphic region of an SR-BI gene, and kits for performing such methods.
Inventors
- 👤 Susan Laurene Acton
Bibliographic Details
Application Number
—
Jurisdiction
US
Data Source
google_patents
Last Synchronized
2026-11-09 17:07
CPC Classifications
C; C12; C12Q; C12Q1/00; C12Q1/68; C12Q1/6876; C12Q1/6883; C12Q2600/00; C12Q2600/156
Claims Analysis
Total Claims: 58
Claim 1
Independent Claim
26 words
An isolated nucleic acid comprising an intronic sequence of an SR-BI gene as shown in FIG. 2 or any of SEQ ID Nos. 5-16 and 18-40.
Claim 2
Dependent Claim
26 words
An isolated nucleic acid comprising an intronic sequence of an SR-BI gene as shown in FIG. 2 or any of SEQ ID Nos. 5-16 and 18-40.
Claim 3
Dependent Claim
11 words
An isolated nucleic acid of claim 1 comprising an intron/exon border.
Claim 4
Dependent Claim
43 words
An isolated nucleic acid, which is capable of hybridizing under a stringency of 0.2× sodium chloride sodium citrate (SSC) at 50° C., followed by a wash of 2.0× SSC at 50° C. to an intronic sequence of the nucleic acid of claim 1.
Claim 5
Dependent Claim
16 words
An isolated nucleic acid of claim 1, further comprising at least a portion of an exon.
Claim 6
Dependent Claim
15 words
An isolated nucleic acid of claim 1, comprising from about 15 to about 30 nucleotides.
Claim 7
Dependent Claim
13 words
An isolated nucleic acid of claim 1, comprising at least about 31 nucleotides.
Claim 8
Dependent Claim
34 words
An isolated nucleic acid of claim 5, comprising a nucleotide sequence selected from the group consisting of SEQ ID NO. 41 to SEQ ID NO. 64, SEQ ID NO. 83, and SEQ ID NO.84.
Claim 9
Dependent Claim
11 words
An isolated nucleic acid of claim 1, which is single stranded.
Claim 10
Dependent Claim
12 words
An isolated nucleic acid of claim 1, which further comprises a label.
Claim 11
Dependent Claim
33 words
An isolated nucleic acid, comprising an allelic variant of a polymorphic region of an SR-BI gene, which allelic variant differs from the allelic variant set forth in SEQ ID NO. 1 or 3.
Claim 12
Dependent Claim
33 words
An isolated nucleic acid, comprising an allelic variant of a polymorphic region of an SR-BI gene, which allelic variant differs from the allelic variant set forth in SEQ ID NO. 1 or 3.
Claim 13
Dependent Claim
16 words
An isolated nucleic acid of claim 10, wherein the polymorphic region is located in an exon.
Claim 14
Dependent Claim
13 words
An isolated nucleic acid of claim 11, wherein the exon is exon 8.
Claim 15
Dependent Claim
22 words
An isolated nucleic acid of claim 12, wherein the allelic variant comprises a nucleotide sequence set forth in SEQ ID NO. 65.
Claim 16
Dependent Claim
16 words
An isolated nucleic acid of claim 10, wherein the polymorphic region is located in an intron.
Claim 17
Dependent Claim
13 words
An isolated nucleic acid of claim 14, wherein the intron is intron 5.
Claim 18
Dependent Claim
22 words
An isolated nucleic acid of claim 15, wherein the allelic variant comprises a nucleotide sequence set forth in SEQ ID NO. 66.
Claim 19
Dependent Claim
32 words
An isolated intronic nucleic acid sequence of a genomic DNA sequence comprising an SR-BI gene, wherein the intronic nucleic acid sequence comprises a nucleotide sequence of any of SEQ ID NO. 18-40.
Claim 20
Dependent Claim
32 words
An isolated intronic nucleic acid sequence of a genomic DNA sequence comprising an SR-BI gene, wherein the intronic nucleic acid sequence comprises a nucleotide sequence of any of SEQ ID NO. 18-40.
Claim 21
Dependent Claim
52 words
A kit for amplifying and/or for determining the molecular structure of, at least a portion of an SR-BI gene, comprising a probe or primer which is capable of hybridizing to an SR-BI intronic sequence as shown in FIG. 2 or any of SEQ ID Nos. 5-16 and 18-40 and instructions for use.
Claim 22
Dependent Claim
52 words
A kit for amplifying and/or for determining the molecular structure of, at least a portion of an SR-BI gene, comprising a probe or primer which is capable of hybridizing to an SR-BI intronic sequence as shown in FIG. 2 or any of SEQ ID Nos. 5-16 and 18-40 and instructions for use.
Claim 23
Dependent Claim
40 words
A kit of claim 18, wherein the probe or primer is capable of hybridizing to a nucleic acid comprising an intron/exon border of an SR-BI gene as shown in FIG. 2 or any of SEQ ID Nos. 5-16 and 18-40.
Claim 24
Dependent Claim
45 words
A kit of claim 18, wherein the probe or primer is capable of hybridizing to an allelic variant of a polymorphic region of an SR-BI gene, and wherein the allelic variant differs from the allelic variant set forth in SEQ ID NO. 1 or 3.
Claim 25
Dependent Claim
14 words
A kit of claim 20, wherein the polymorphic region is located in an exon.
Claim 26
Dependent Claim
11 words
A kit of claim 21, wherein the exon is exon 8.
Claim 27
Dependent Claim
24 words
A kit of claim 22, wherein the allelic variant of a polymorphic region has a nucleotide sequence set forth in SEQ ID NO. 65.
Claim 28
Dependent Claim
14 words
A kit of claim 20, wherein the polymorphic region is located in an intron.
Claim 29
Dependent Claim
11 words
A kit of claim 24, wherein the intron is intron 5.
Claim 30
Dependent Claim
24 words
A kit of claim 25, wherein the allelic variant of a polymorphic region has a nucleotide sequence set forth in SEQ ID NO. 66.
Claim 31
Dependent Claim
12 words
A kit of claim 18, further comprising a second probe or primer.
Claim 32
Dependent Claim
21 words
A kit of claim 18, wherein the probe or primer has a nucleotide sequence from about 15 to about 30 nucleotides.
Claim 33
Dependent Claim
42 words
A kit of claim 28, wherein the probe or primer comprises a nucleotide sequence selected from the group consisting of nucleic acids having a nucleotide sequence set forth in SEQ ID Nos. 41-64, SEQ ID Nos. 67-82, and SEQ ID Nos 83-84.
Claim 34
Dependent Claim
35 words
A kit of claim 29, wherein the kit has two primers selected from the group consisting of nucleic acids having a nucleotide sequence set forth in SEQ ID Nos. 41-64 and SEQ ID Nos. 83-84.
Claim 35
Dependent Claim
16 words
A kit of claim 18, wherein the probe or primer is a single stranded nucleic acid.
Claim 36
Dependent Claim
12 words
A kit of claim 18, wherein the probe or primer is labeled.
Claim 37
Independent Claim
83 words
A method for determining the identity of an allele of a human SR-BI gene in a nucleic acid obtained from a subject, comprising contacting a sample nucleic acid comprising the allele with a probe or primer having a sequence which is complementary to a human SR-BI gene sequence, to thereby determine the identity of the allele, wherein the probe or primer is capable of hybridizing to an SR-BI intron as shown in FIG. 2 or any of SEQ ID Nos. 5-16 and 18-40.
Claim 38
Independent Claim
83 words
A method for determining the identity of an allele of a human SR-BI gene in a nucleic acid obtained from a subject, comprising contacting a sample nucleic acid comprising the allele with a probe or primer having a sequence which is complementary to a human SR-BI gene sequence, to thereby determine the identity of the allele, wherein the probe or primer is capable of hybridizing to an SR-BI intron as shown in FIG. 2 or any of SEQ ID Nos. 5-16 and 18-40.
Claim 39
Dependent Claim
41 words
A method of claim 33, wherein the probe or primer is capable of hybridizing to an allelic variant of a polymorphic region, and wherein the allelic variant differs from the allelic variant set forth in SEQ ID NO. 1 or 3.
Claim 40
Dependent Claim
26 words
A method of claim 33, wherein determining the the identity of the allele comprises determining the identity of at least one nucleotide of a polymorphic region.
Claim 41
Dependent Claim
22 words
A method of claim 33, wherein determining the identity of the allele consists of determining the nucleotide content of a polymorphic region.
Claim 42
Dependent Claim
15 words
A method of claim 36, wherein determining the nucleotide content comprises sequencing the nucleotide sequence.
Claim 43
Dependent Claim
19 words
A method of claim 33, wherein determining the identity of the allele comprises performing a restriction enzyme site analysis.
Claim 44
Dependent Claim
19 words
A method of claim 33, wherein determining the identity of the allele is carried out by single-stranded conformation polymorphism.
Claim 45
Dependent Claim
19 words
A method of claim 33, wherein determining the identity of the allele is carried out by allele specific hybridization.
Claim 46
Dependent Claim
19 words
A method of claim 33, wherein determining the identity of the allele is carried out by primer specific extension.
Claim 47
Dependent Claim
20 words
A method of claim 33, wherein determining the identity of the allele is carried out by an oligonucleotide ligation assay.
Claim 48
Dependent Claim
21 words
A method of claim 33, wherein the probe or primer has a nucleotide sequence from about 15 to about 30 nucleotides.
Claim 49
Dependent Claim
30 words
A method of claim 43, wherein the probe or primer is selected from the group consisting of nucleic acids having a nucleotide sequence set forth in SEQ ID Nos. 41-65.
Claim 50
Dependent Claim
41 words
A method of claim 44, wherein the method comprises hybridizing the sample nucleic acid with two primers selected from the group consisting of nucleic acids having a nucleotide sequence set forth in SEQ ID Nos. 41-64 and SEQ ID Nos. 83-84.
Claim 51
Dependent Claim
16 words
A method of claim 33, wherein the probe or primer is a single stranded nucleic acid.
Claim 52
Dependent Claim
12 words
A method of claim 33, wherein the probe or primer is labeled.
Claim 53
Dependent Claim
22 words
A method of claim 33, wherein the probe or primer is capable of hybridizing to an intron/exon border of an SR-BI gene.
Claim 54
Independent Claim
55 words
A method for selecting the appropriate drug to administer to an individual having a disease or condition which is associated with a specific allele of an SR-=BI gene, comprising determining whether the specific allele is present in a nucleic acid sample of the individual and selecting the appropriate drug if the specific allele is present.
Claim 55
Independent Claim
55 words
A method for selecting the appropriate drug to administer to an individual having a disease or condition which is associated with a specific allele of an SR-=BI gene, comprising determining whether the specific allele is present in a nucleic acid sample of the individual and selecting the appropriate drug if the specific allele is present.
Claim 56
Dependent Claim
29 words
A method of claim 49, wherein the disease or condition is abnormal lipid metabolism, inappropriate lipid levels, a cardiovascular disease, atherosclerosis) gallstone formation, or an abnormal body mass index.
Claim 57
Dependent Claim
24 words
A method of claim 49, wherein the allele contains a thymidine at position 41 of exon 8 as shown in SEQ ID No. 65.
Claim 58
Dependent Claim
24 words
A method of claim 49, wherein the allele contains a thymidine at position 54 of intron 5 as shown in SEQ ID No. 66.
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) | 2002-12-06 | 2003-06-07 | 2003-12-07 | $2000.00 | Window Closed / Lapsed |
| 7.5 Years (Year 8) | 2006-12-06 | 2007-06-07 | 2007-12-07 | $3760.00 | Window Closed / Lapsed |
| 11.5 Years (Year 12) | 2010-12-06 | 2011-06-07 | 2011-12-07 | $7700.00 | Window Closed / Lapsed |