Cystic fibrosis mutation cluster
First Claim
Patent Images
1. A nucleic acid probe which is complementary to a mutant allele of the CFTR gene said allele being selected from the group consisting of:
- Asn549, Asp551, Stop553, and Thr559.
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Abstract
Four mutations have been found clustered in exon 11 of the CFTR (cystic fibrosis transmembrane conductance regulator) gene. These mutations occur within a set of amino acids highly conserved among ATP-dependent transport proteins. Humans can be tested to determine whether they carry one of these mutations using a number of methods and/or probes taught herein. Specifically the mutations include: Asn549, Asp551, Stop553, and Thr559.
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Citations
33 Claims
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1. A nucleic acid probe which is complementary to a mutant allele of the CFTR gene said allele being selected from the group consisting of:
Asn549, Asp551, Stop553, and Thr559. - View Dependent Claims (2, 3, 4, 5, 32)
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2. The probe of claim 1 which is complementary to the Asn549 allele.
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3. The probe of claim 1 which is complementary to the Thr559 allele.
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4. The probe of claim 1 which is complementary to the ASP551 allele.
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5. The probe of claim 1 which is complementary to the Stop553 allele.
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32. The probe of claim 1 which comprises 18 to 22 nucleotides.
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2. The probe of claim 1 which is complementary to the Asn549 allele.
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6. A method of testing a DNA sample of a human to determine if the human is a carder of Cystic Fibrosis or if the human is affected with Cystic Fibrosis, comprising:
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providing a sample of DNA from a human; testing the sample for the presence of a mutation in exon 11 of the CFTR gene, said mutation comprising a nucleotide selected from the group consisting of;
an adenine at nucleotide number 1778, 1784, or 1807, and a thymidine at nucleotide 1789, the presence of the mutation indicating that the human is a carder of Cystic Fibrosis or is affected with Cystic Fibrosis. - View Dependent Claims (7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 33)
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7. The method of claim 6 wherein the step of testing comprises amplifying exon 11 of said gene in a sample of DNA from the human to form a population of amplified DNA.
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8. The method of claim 7 further comprising the step
determining the conformation of single strands of the amplified DNA, a conformation different from that of single strands of amplified exon 11 of wild-type CFTR allele indicating an exon 11 mutation. -
9. The method of claim 7 wherein the step of amplifying is performed in the presence of radiolabeled deoxynucleotide triphosphates or radiolabeled primers to form labeled amplified DNA.
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10. The method of claim 8 wherein the conformation is determined by electrophoresis on non-denaturing gels.
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11. The method of claim 7 further comprising the step of;
determining the melting temperature of double strands of the amplified DNA, the presence of species of amplified DNA in the population of amplified DNA having different melting temperatures from DNA amplified from exon 11 of wild-type CFTR allele indicating a mutation in exon 11 of at least one allele of the CFTR gene in the human.
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12. The method of claim 11 wherein the melting temperatures are determined by means of denaturing gradient gel electrophoresis.
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13. The method of claim 6 further comprising:
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contacting the human DNA sample with a nucleic acid probe complementary to a mutant allele of the CFTR gene, said allele being selected from the group consisting of;
Asn549, Asp551, Stop553, and Thr559, under conditions where totally homologous sequences anneal but sequences differing in one nucleotide do not;detecting whether the human DNA sample anneals to one of said probes, annealing to one of said probes indicating the presence of a mutant CFTR allele which can cause cystic fibrosis if no wild type allele is present in the human.
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14. The method of claim 13 wherein the human DNA sample has been amplified to increase the number of copies of exon 11 of the CFTR gene.
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15. The method of claim 6 further comprising:
determining the nucleotide sequence of a region of exon 11 of a CFTR allele of a human, said region comprising nucleotides 1778-1807; inspecting the sequence to determine if there is an adenine at nucleotides number 1778, 1784, or 1807, or a thymidine at nucleotide number 1789, the presence of at least one of said nucleotides indicating a mutation in a CFTR allele which can cause cystic fibrosis if no wild-type CFTR allele is present in the human.
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16. The method of claim 7 further comprising:
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digesting an aliquot of the amplified exon 11 DNA with a restriction endonuclease which recognizes a sequence CTNAG which occurs at nucleotide 1778 of the wild-type CFTR allele, to form DNA fragments; measuring the size of the amplified exon 11 DNA and the DNA fragments, DNA fragments which are the same size as the amplified exon 11 DNA indicating a mutation in a CFTR allele which can cause cystic fibrosis if no wild-type CFTR allele is present in the human.
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17. The method of claim 16 wherein the endonuclease is DdeI.
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18. The method of claim 7 further comprising:
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digesting an aliquot of the amplified exon 11 DNA with a restriction endonuclease which recognizes a sequence GTYRAC which occurs at nucleotide 1784 of the wild-type CFTR allele, to form DNA fragments; measuring the size of the amplified exon 11 DNA and the DNA fragments, DNA fragments which are the same size as the amplified exon 11 DNA indicating a mutation in a CFTR allele which can cause cystic fibrosis if no wild-type CFTR allele is present in the human.
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19. The method of claim 18 wherein the endonuclease is HincII.
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20. The method of claim 7 further comprising:
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digesting an aliquot of the amplified exon 11 DNA with a restriction endonuclease which recognizes a sequence GTYRAC which occurs at nucleotide 1789 of the wild-type CFTR allele to form DNA fragments; measuring the size of the amplified exon 11 DNA and the DNA fragments, DNA fragments which are the same size as the amplified exon 11 DNA indicating a mutation in a CFTR allele which can cause cystic fibrosis if no wild-type CFTR allele is present in the human.
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21. The method of claim 20 wherein the endonuelease is HineII.
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22. The method of claim 7 further comprising:
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digesting an aliquot of the amplified exon 11 DNA with a restriction endonuclease which recognizes a sequence GATC which occurs at nucleotide 1784 of a mutant CFTR allele but does nor recognize the sequence in a wild-type CFTR allele, to form DNA fragments; measuring the size of the amplified exon 11 DNA and the DNA fragments, DNA fragments which are not the same size as the amplified exon 11 DNA indicating a mutation in a CFTR allele which can cause cystic fibrosis if no wild-type CFTR allele is present in the human.
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23. The method of claim 22 wherein the endonuclease is MboI.
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24. The method of claim 6 further comprising:
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digesting DNA of the human with a restriction endonuclease which recognizes a sequence GATC which occurs at nucleotide 1784 of a mutant CFTR allele but not of a wild-type CFTR allele; separating the digested DNA on a gel matrix; hybridizing the separated, digested DNA with an exon 11 probe which spans nucleotides 1784 but does not span any other sequence which the endonuclease recognizes; detecting the DNA which hybridizes to the probe, two hybridizing fragments indicating a mutation in a CFTR allele of the human which can cause cystic fibrosis if no wild-type CFTR allele is present in the human.
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25. The method of claim 24 wherein the endonuclease is MboI.
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26. The method of claim 6 further comprising:
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digesting DNA of the human with a restriction endonuclease which recognizes a sequence CTNAG which occurs at nucleotide 1778 of the wild-type CFTR allele; separating the digested DNA on a gel matrix; hybridizing the separated, digested DNA with an exon 11 probe which spans nucleotide 1778 but does not span any other sequence which the endonuclease recognizes; detecting the DNA which hybridizes to the probe, only one hybridizing fragment indicating a mutation in a CFTR gene of the human which can cause cystic fibrosis if no wild-type CFTR allele is present in the human.
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27. The method of claim 26 wherein the endonuclease is DdeI.
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28. The method of claim 6 further comprising:
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digesting DNA of the human with a restriction endonuclease which recognizes a sequence GTYRAC which occurs at nucleotide 1784 of the wild-type CFTR allele; separating the digested DNA on a gel matrix; hybridizing the separated, digested DNA with an exon 11 probe which spans nucleotide 1784 but does not span any other sequence which the endonuclease recognizes; detecting the DNA which hybridizes to the probe, only one hybridizing fragment indicating a mutation in a CFTR gene of the human which can cause cystic fibrosis if no wild-type CFTR allele is present in the human.
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29. The method of claim 28 wherein the endonuclease is HincII.
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30. The method of claim 6 further comprising:
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digesting DNA of the human with a restriction endonuclease which recognizes a sequence GTYRAC which occurs at nucleotide 1789 of the wild-type CFTR allele; separating the digested DNA on a gel matrix; hybridizing the separated, digested DNA with an exon 11 probe which spans nucleotide 1789 but does not span any other sequence which the endonuclease recognizes; detecting the DNA which hybridizes to the probe, only one hybridizing fragment indicating a mutation in a CFTR gene of the human which can cause cystic fibrosis if no wild-type CFTR allele is present in the human.
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- 31. The method of claim 30 wherein the endonuclease is HincII.
- space="preserve" listing-type="tabular">__________________________________________________________________________SEQUENCE LISTING (1) GENERAL INFORMATION;
(iii) NUMBER OF SEQUENCES;
4 (2) INFORMATION FOR SEQ ID NO;
1;
(i) SEQUENCE CHARACTERISTICS;
(A) LENGTH;
6129 base pairs (B) TYPE;
nucleic acid (C) STRANDEDNESS;
double (D) TOPOLOGY;
linear (ii) MOLECULE TYPE;
cDNA (iii) HYPOTHETICAL;
NO (iv) ANTI-SENSE;
NO (vi) ORIGINAL SOURCE;
(A) ORGANISM;
Homo sapiens (xi) SEQUENCE DESCRIPTION;
SEQ ID NO;
1;
AATTGGAAGCAAATGACATCACAGCAGGTCAGAGAAAAAGGGTTGAGCGGCAGGCACCCA60 GAGTAGTAGGTCTTTGGCATTAGGAGCTTGAGCCCAGACGGCCCTAGCAGGGACCCCAGC120 G CCCGAGAGACCATGCAGAGGTCGCCTCTGGAAAAGGCCAGCGTTGTCTCCAAACTTTTT180 TTCAGCTGGACCAGACCAATTTTGAGGAAAGGATACAGACAGCGCCTGGAATTGTCAGAC240 ATATACCAAATCCCTTCTGTTGATTCTGCTGACAATCTATCTGAAAA ATTGGAAAGAGAA300 TGGGATAGAGAGCTGGCTTCAAAGAAAAATCCTAAACTCATTAATGCCCTTCGGCGATGT360 TTTTTCTGGAGATTTATGTTCTATGGAATCTTTTTATATTTAGGGGAAGTCACCAAAGCA420 GTACAGCCTCTCTTACTGGGAAGA ATCATAGCTTCCTATGACCCGGATAACAAGGAGGAA480 CGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTG540 CTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATG600 T TTAGTTTGATTTATAAGAAGACTTTAAAGCTGTCAAGCCGTGTTCTAGATAAAATAAGT660 ATTGGACAACTTGTTAGTCTCCTTTCCAACAACCTGAACAAATTTGATGAAGGACTTGCA720 TTGGCACATTTCGTGTGGATCGCTCCTTTGCAAGTGGCACTCCTCAT GGGGCTAATCTGG780 GAGTTGTTACAGGCGTCTGCCTTCTGTGGACTTGGTTTCCTGATAGTCCTTGCCCTTTTT840 CAGGCTGGGCTAGGGAGAATGATGATGAAGTACAGAGATCAGAGAGCTGGGAAGATCAGT900 GAAAGACTTGTGATTACCTCAGAA ATGATTGAAAATATCCAATCTGTTAAGGCATACTGC960 TGGGAAGAAGCAATGGAAAAAATGATTGAAAACTTAAGACAAACAGAACTGAAACTGACT1020 CGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTT1080 G TGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATA1140 TTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGG1200 GCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATACA GGATTTCTTACAA1260 AAGCAAGAATATAAGACATTGGAATATAACTTAACGACTACAGAAGTAGTGATGGAGAAT1320 GTAACAGCCTTCTGGGAGGAGGGATTTGGGGAATTATTTGAGAAAGCAAAACAAAACAAT1380 AACAATAGAAAAACTTCTAATGGT GATGACAGCCTCTTCTTCAGTAATTTCTCACTTCTT1440 GGTACTCCTGTCCTGAAAGATATTAATTTCAAGATAGAAAGAGGACAGTTGTTGGCGGTT1500 GCTGGATCCACTGGAGCAGGCAAGACTTCACTTCTAATGATGATTATGGGAGAACTGGAG1560 C CTTCAGAGGGTAAAATTAAGCACAGTGGAAGAATTTCATTCTGTTCTCAGTTTTCCTGG1620 ATTATGCCTGGCACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAATATAGA1680 TACAGAAGCGTCATCAAAGCATGCCAACTAGAAGAGGACATCTCCAA GTTTGCAGAGAAA1740 GACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATT1800 TCTTTAGCAAGAGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGA1860 TACCTAGATGTTTTAACAGAAAAA GAAATATTTGAAAGCTGTGTCTGTAAACTGATGGCT1920 AACAAAACTAGGATTTTGGTCACTTCTAAAATGGAACATTTAAAGAAAGCTGACAAAATA1980 TTAATTTTGAATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAAATCTA2040 C AGCCAGACTTTAGCTCAAAACTCATGGGATGTGATTCTTTCGACCAATTTAGTGCAGAA2100 AGAAGAAATTCAATCCTAACTGAGACCTTACACCGTTTCTCATTAGAAGGAGATGCTCCT2160 GTCTCCTGGACAGAAACAAAAAAACAATCTTTTAAACAGACTGGAGA GTTTGGGGAAAAA2220 AGGAAGAATTCTATTCTCAATCCAATCAACTCTATACGAAAATTTTCCATTGTGCAAAAG2280 ACTCCCTTACAAATGAATGGCATCGAAGAGGATTCTGATGAGCCTTTAGAGAGAAGGCTG2340 TCCTTAGTACCAGATTCTGAGCAG GGAGAGGCGATACTGCCTCGCATCAGCGTGATCAGC2400 ACTGGCCCCACGCTTCAGGCACGAAGGAGGCAGTCTGTCCTGAACCTGATGACACACTCA2460 GTTAACCAAGGTCAGAACATTCACCGAAAGACAACAGCATCCACACGAAAAGTGTCACTG2520 G CCCCTCAGGCAAACTTGACTGAACTGGATATATATTCAAGAAGGTTATCTCAAGAAACT2580 GGCTTGGAAATAAGTGAAGAAATTAACGAAGAAGACTTAAAGGAGTGCCTTTTTGATGAT2640 ATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATA TATTACTGTCCAC2700 AAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAGAGGTGGCTGCT2760 TCTTTGGTTGTGCTGTGGCTCCTTGGAAACACTCCTCTTCAAGACAAAGGGAATAGTACT2820 CATAGTAGAAATAACAGCTATGCA GTGATTATCACCAGCACCAGTTCGTATTATGTGTTT2880 TACATTTACGTGGGAGTAGCCGACACTTTGCTTGCTATGGGATTCTTCAGAGGTCTACCA2940 CTGGTGCATACTCTAATCACAGTGTCGAAAATTTTACACCACAAAATGTTACATTCTGTT3000 C TTCAAGCACCTATGTCAACCCTCAACACGTTGAAAGCAGGTGGGATTCTTAATAGATTC3060 TCCAAAGATATAGCAATTTTGGATGACCTTCTGCCTCTTACCATATTTGACTTCATCCAG3120 TTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACA ACCCTACATCTTT3180 GTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACC3240 TCACAGCAACTCAAACAACTGGAATCTGAAGGCAGGAGTCCAATTTTCACTCATCTTGTT3300 ACAAGCTTAAAAGGACTATGGACA CTTCGTGCCTTCGGACGGCAGCCTTACTTTGAAACT3360 CTGTTCCACAAAGCTCTGAATTTACATACTGCCAACTGGTTCTTGTACCTGTCAACACTG3420 CGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTC3480 A TTTCCATTTTAACAACAGGAGAAGGAGAAGGAAGAGTTGGTATTATCCTGACTTTAGCC3540 ATGAATATCATGAGTACATTGCAGTGGGCTGTAAACTCCAGCATAGATGTGGATAGCTTG3600 ATGCGATCTGTGAGCCGAGTCTTTAAGTTCATTGACATGCCAACAGA AGGTAAACCTACC3660 AAGTCAACCAAACCATACAAGAATGGCCAACTCTCGAAAGTTATGATTATTGAGAATTCA3720 CACGTGAAGAAAGATGACATCTGGCCCTCAGGGGGCCAAATGACTGTCAAAGATCTCACA3780 GCAAAATACACAGAAGGTGGAAAT GCCATATTAGAGAACATTTCCTTCTCAATAAGTCCT3840 GGCCAGAGGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCT3900 TTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCA3960 A TAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGAAAGTATTTATTTTT4020 TCTGGAACATTTAGAAAAAACTTGGATCCCTATGAACAGTGGAGTGATCAAGAAATATGG4080 AAAGTTGCAGATGAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCC TGGGAAGCTTGAC4140 TTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTG4200 GCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTG4260 GATCCAGTAACATACCAAATAATT AGAAGAACTCTAAAACAAGCATTTGCTGATTGCACA4320 GTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTTGGTCATA4380 GAAGAGAACAAAGTGCGGCAGTACGATTCCATCCAGAAACTGCTGAACGAGAGGAGCCTC4440 T TCCGGCAAGCCATCAGCCCCTCCGACAGGGTGAAGCTCTTTCCCCACCGGAACTCAAGC4500 AAGTGCAAGTCTAAGCCCCAGATTGCTGCTCTGAAAGAGGAGACAGAAGAAGAGGTGCAA4560 GATACAAGGCTTTAGAGAGCAGCATAAATGTTGACATGGGACATTTG CTCATGGAATTGG4620 AGCTCGTGGGACAGTCACCTCATGGAATTGGAGCTCGTGGAACAGTTACCTCTGCCTCAG4680 AAAACAAGGATGAATTAAGTTTTTTTTTAAAAAAGAAACATTTGGTAAGGGGAATTGAGG4740 ACACTGATATGGGTCTTGATAAAT GGCTTCCTGGCAATAGTCAAATTGTGTGAAAGGTAC4800 TTCAAATCCTTGAAGATTTACCACTTGTGTTTTGCAAGCCAGATTTTCCTGAAAACCCTT4860 GCCATGTGCTAGTAATTGGAAAGGCAGCTCTAAATGTCAATCAGCCTAGTTGATCAGCTT4920 A TTGTCTAGTGAAACTCGTTAATTTGTAGTGTTGGAGAAGAACTGAAATCATACTTCTTA4980 GGGTTATGATTAAGTAATGATAACTGGAAACTTCAGCGGTTTATATAAGCTTGTATTCCT5040 TTTTCTCTCCTCTCCCCATGATGTTTAGAAACACAACTATATTGTTT GCTAAGCATTCCA5100 ACTATCTCATTTCCAAGCAAGTATTAGAATACCACAGGAACCACAAGACTGCACATCAAA5160 ATATGCCCCATTCAACATCTAGTGAGCAGTCAGGAAAGAGAACTTCCAGATCCTGGAAAT5220 CAGGGTTAGTATTGTCCAGGTCTA CCAAAAATCTCAATATTTCAGATAATCACAATACAT5280 CCCTTACCTGGGAAAGGGCTGTTATAATCTTTCACAGGGGACAGGATGGTTCCCTTGATG5340 AAGAAGTTGATATGCCTTTTCCCAACTCCAGAAAGTGACAAGCTCACAGACCTTTGAACT5400 A GAGTTTAGCTGGAAAAGTATGTTAGTGCAAATTGTCACAGGACAGCCCTTCTTTCCACA5460 GAAGCTCCAGGTAGAGGGTGTGTAAGTAGATAGGCCATGGGCACTGTGGGTAGACACACA5520 TGAAGTCCAAGCATTTAGATGTATAGGTTGATGGTGGTATGTTTTCA GGCTAGATGTATG5580 TACTTCATGCTGTCTACACTAAGAGAGAATGAGAGACACACTGAAGAAGCACCAATCATG5640 AATTAGTTTTATATGCTTCTGTTTTATAATTTTGTGAAGCAAAATTTTTTCTCTAGGAAA5700 TATTTATTTTAATAATGTTTCAAA CATATATTACAATGCTGTATTTTAAAAGAATGATTA5760 TGAATTACATTTGTATAAAATAATTTTTATATTTGAAATATTGACTTTTTATGGCACTAG5820 TATTTTTATGAAATATTATGTTAAAACTGGGACAGGGGAGAACCTAGGGTGATATTAACC5880 A GGGGCCATGAATCACCTTTTGGTCTGGAGGGAAGCCTTGGGGCTGATCGAGTTGTTGCC5940 CACAGCTGTATGATTCCCAGCCAGACACAGCCTCTTAGATGCAGTTCTGAAGAAGATGGT6000 ACCACCAGTCTGACTGTTTCCATCAAGGGTACACTGCCTTCTCAACT CCAAACTGACTCT6060 TAAGAAGACTGCATTATATTTATTACTGTAAGAAAATATCACTTGTCAATAAAATCCATA6120 CATTTGTGT6129 (2) INFORMATION FOR SEQ ID NO;
2;
(i) SEQUENCE CHARACTERISTICS;
(A) LENGTH;
1480 amino acids (B) TYPE;
amino acid (D) TOPOLOGY;
linear (ii) MOLECULE TYPE;
protein (vi) ORIGINAL SOURCE;
(A) ORGANISM;
HOMO SAPIENS (xi) SEQUENCE DESCRIPTION;
SEQ ID NO;
2;
MetGlnArgSerProLeuGluLysAlaSerValValSerLysLeuPhe 1 51015 PheSerTrpThrArgProIleLeuArgLysGlyTyrArgGlnArgLeu 202530 GluLeuSerA spIleTyrGlnIleProSerValAspSerAlaAspAsn 354045 LeuSerGluLysLeuGluArgGluTrpAspArgGluLeuAlaSerLys 50 5560 LysAsnProLysLeuIleAsnAlaLeuArgArgCysPhePheTrpArg 65707580 PheMetPheTyrGlyI lePheLeuTyrLeuGlyGluValThrLysAla 859095 ValGlnProLeuLeuLeuGlyArgIleIleAlaSerTyrAspProAsp 100 105110 AsnLysGluGluArgSerIleAlaIleTyrLeuGlyIleGlyLeuCys 115120125 LeuLeuPheIleValArg ThrLeuLeuLeuHisProAlaIlePheGly 130135140 LeuHisHisIleGlyMetGlnMetArgIleAlaMetPheSerLeuIle 145150 155160 TyrLysLysThrLeuLysLeuSerSerArgValLeuAspLysIleSer 165170175 IleGlyGlnLeuVal SerLeuLeuSerAsnAsnLeuAsnLysPheAsp 180185190 GluGlyLeuAlaLeuAlaHisPheValTrpIleAlaProLeuGlnVal 195 200205 AlaLeuLeuMetGlyLeuIleTrpGluLeuLeuGlnAlaSerAlaPhe 210215220 CysGlyLeuGlyPheLeuIleValL euAlaLeuPheGlnAlaGlyLeu 225230235240 GlyArgMetMetMetLysTyrArgAspGlnArgAlaGlyLysIleSer 245 250255 GluArgLeuValIleThrSerGluMetIleGluAsnIleGlnSerVal 260265270 LysAlaTyrCysTrpGl uGluAlaMetGluLysMetIleGluAsnLeu 275280285 ArgGlnThrGluLeuLysLeuThrArgLysAlaAlaTyrValArgTyr 290 295300 PheAsnSerSerAlaPhePhePheSerGlyPhePheValValPheLeu 305310315320 SerValLeuProTyrAlaLeu IleLysGlyIleIleLeuArgLysIle 325330335 PheThrThrIleSerPheCysIleValLeuArgMetAlaValThrArg 340 345350 GlnPheProTrpAlaValGlnThrTrpTyrAspSerLeuGlyAlaIle 355360365 AsnLysIleGlnAspPheLeu GlnLysGlnGluTyrLysThrLeuGlu 370375380 TyrAsnLeuThrThrThrGluValValMetGluAsnValThrAlaPhe 385390 395400 TrpGluGluGlyPheGlyGluLeuPheGluLysAlaLysGlnAsnAsn 405410415 AsnAsnArgLysThrSerA snGlyAspAspSerLeuPhePheSerAsn 420425430 PheSerLeuLeuGlyThrProValLeuLysAspIleAsnPheLysIle 435 440445 GluArgGlyGlnLeuLeuAlaValAlaGlySerThrGlyAlaGlyLys 450455460 ThrSerLeuLeuMetMetIleMetGlyGl uLeuGluProSerGluGly 465470475480 LysIleLysHisSerGlyArgIleSerPheCysSerGlnPheSerTrp 485 490495 IleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyr 500505510 AspGluTyrArgTyrArgSer ValIleLysAlaCysGlnLeuGluGlu 515520525 AspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGly 530535 540 GlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArg 545550555560 AlaValTyrLysAspAlaAspLeu TyrLeuLeuAspSerProPheGly 565570575 TyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCys 580 585590 LysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGlu 595600605 HisLeuLysLysAlaAspLysIleL euIleLeuAsnGluGlySerSer 610615620 TyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPhe 625630 635640 SerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGlu 645650655 ArgArgAsnSerIleLeuThrGl uThrLeuHisArgPheSerLeuGlu 660665670 GlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLys 675 680685 GlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnPro 690695700 IleAsnSerIleArgLysPheSerIleValGln LysThrProLeuGln 705710715720 MetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeu 725 730735 SerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIle 740745750 SerValIleSerThrGlyProThr LeuGlnAlaArgArgArgGlnSer 755760765 ValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHis 770775 780 ArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAla 785790795800 AsnLeuThrGluLeuAspIleTyrSerA rgArgLeuSerGlnGluThr 805810815 GlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCys 820 825830 LeuPheAspAspMetGluSerIleProAlaValThrThrTrpAsnThr 835840845 TyrLeuArgTyrIleThrValHisLysSe rLeuIlePheValLeuIle 850855860 TrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValVal 865870875 880 LeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThr 885890895 HisSerArgAsnAsnSerTyrAlaVal IleIleThrSerThrSerSer 900905910 TyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAla 915920 925 MetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrVal 930935940 SerLysIleLeuHisHisLysMetLeuHisSerVal LeuGlnAlaPro 945950955960 MetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPhe 9659 70975 SerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePhe 980985990 AspPheIleGlnLeuLeuLeuIleValI leGlyAlaIleAlaValVal 99510001005 AlaValLeuGlnProTyrIlePheValAlaThrValProValIleVal 10101015 1020 AlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeu 1025103010351040 LysGlnLeuGluSerGluGlyArgSerPro IlePheThrHisLeuVal 104510501055 ThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnPro 1060 10651070 TyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsn 107510801085 TrpPheLeuTyrLeuSerThrLeuArgT rpPheGlnMetArgIleGlu 109010951100 MetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeu 110511101 1151120 ThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAla 112511301135 MetAsnIleMetSerThrLeuGln TrpAlaValAsnSerSerIleAsp 114011451150 ValAspSerLeuMetArgSerValSerArgValPheLysPheIleAsp 1155 11601165 MetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsn 117011751180 GlyGlnLeuSerLysValMetIleIleGluA snSerHisValLysLys 1185119011951200 AspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThr 1205 12101215 AlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPhe 122012251230 SerIleSerProGlyGlnArg ValGlyLeuLeuGlyArgThrGlySer 123512401245 GlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGlu 1250125 51260 GlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGln 1265127012751280 GlnTrpArgLysAlaPheGlyV alIleProGlnLysValPheIlePhe 128512901295 SerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAsp 1300 13051310 GlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIle 131513201325 GluGlnPheProGlyLysLeu AspPheValLeuValAspGlyGlyCys 133013351340 ValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerVal 13451350 13551360 LeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeu 136513701375 AspProValThrTyrG lnIleIleArgArgThrLeuLysGlnAlaPhe 138013851390 AlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeu 1395 14001405 GluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyr 141014151420 AspSerIleGlnLysLeuLeuAsn GluArgSerLeuPheArgGlnAla 1425143014351440 IleSerProSerAspArgValLysLeuPheProHisArgAsnSerSer 144 514501455 LysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGlu 146014651470 GluGluValGlnA spThrArgLeu 14751480 (2) INFORMATION FOR SEQ ID NO;
3;
(i) SEQUENCE CHARACTERISTICS;
(A) LENGTH;
24 base pairs (B) TYPE;
nucleic acid (C) STRANDEDNESS;
double (D) TOPOLOGY;
linear (ii) MOLECULE TYPE;
DNA (genomic) (iii) HYPOTHETICAL;
NO (iv) ANTI-SENSE;
NO (vi ) ORIGINAL SOURCE;
(A) ORGANISM;
HOMO SAPIENS (xi) SEQUENCE DESCRIPTION;
SEQ ID NO;
3;
CAACTGTGGTTAAAGCAATAGTGT24 (2) INFORMATION FOR SEQ ID NO;
4;
(i) SEQUENCE CHARACTERISTICS;
(A) LENGTH;
24 base pairs (B) TYPE;
nucleic acid (C) STRANDEDNESS;
double (D) TOPOLOGY;
linear (ii) MOLECULE TYPE;
DNA (genomic) (iii) HYPOTHETICAL;
NO (iv) ANTI-SENSE;
NO (vi) ORIGINAL SOURCE;
(A) ORGANISM;
HOMO SAPIENS (xi) SEQUENCE DESCRIPTION;
SEQ ID NO;
4;
GCACAGATTCTGAGTAACCATAAT24
- space="preserve" listing-type="tabular">__________________________________________________________________________SEQUENCE LISTING (1) GENERAL INFORMATION;
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7. The method of claim 6 wherein the step of testing comprises amplifying exon 11 of said gene in a sample of DNA from the human to form a population of amplified DNA.
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33. The method of claim 13 wherein said nucleic acid probe comprises 18 to 22 nucleotides.
-
Specification
- Resources
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Current AssigneeJohns Hopkins University
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Original AssigneeJohns Hopkins University
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InventorsAntonarakis, Stylianos E., Cutting, Garry R., Kazazian, Haig H. Jr.
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Primary Examiner(s)Wax, Robert A.
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Assistant Examiner(s)JACOBSON, DIAN COOK
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Application NumberUS07/637,621Time in Patent Office1,565 DaysField of Search435/6, 435/91, 435/91.2, 436/94, 536/27, 536/23.2, 536/24.31, 935/77, 935/78US Class Current435/6.11CPC Class CodesA61K 38/00 Medicinal preparations cont...C07K 14/4712 Cystic fibrosisC12Q 1/6883 for diseases caused by alte...C12Q 2600/156 Polymorphic or mutational m...