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Last Updated: March 29, 2024

Claims for Patent: 7,838,646


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Summary for Patent: 7,838,646
Title:Cystic fibrosis transmembrane conductance regulator gene mutations
Abstract: The present invention provides novel mutations of the CFTR gene related to cystic fibrosis or to conditions associated with cystic fibrosis. The mutations include duplication of exons including duplication of exons 6b through 10. Methods of identifying if an individual contains the exons 6b through 10 duplication are provided as well as nucleic acid fragments that contain the junction site of the duplicated segment. The detection of additional mutations in the CFTR gene are also provided.
Inventor(s): Hantash; Feras (Dana Point, CA)
Assignee: Quest Diagnostics Investments Incorporated (Wilmington, DE)
Application Number:11/506,453
Patent Claims:1. An isolated nucleic acid of about 26 kb or less, comprising a CFTR gene intron 10 to intron 6a junction region, wherein at least twelve nucleotides directly adjoining the 5'-side of the junction arc at least 90% identical to intron 10 of the CFTR gene and at least twelve nucleotides directly adjoining the 3'-side of the junction are at least 90% identical to intron 6a of the CFTR gene.

2. The isolated nucleic acid of claim 1 wherein the sequence of the junction region comprises the nucleotide sequence TABLE-US-00011 CATGGTGGG:CCCGGCCTA. (SEQ ID NO: 2)

3. The isolated nucleic acid of claim 1 wherein the sequence of the junction region comprises the nucleotide sequence TABLE-US-00012 GAGCATGGTGGG:CCCGGCCTAAAA. (SEQ ID NO: 3)

4. The isolated nucleic acid of claim 1 wherein the sequence of the junction region comprises the nucleotide sequence TABLE-US-00013 (SEQ ID NO: 4) GTGTAGTGAGCATGGTGGG:CCCGGCCTAAAAAATACTT.

5. An isolated nucleic acid of about 26 kb or less comprising: a) a CFTR gene intron 10 to intron 6a junction region, wherein at least twelve nucleotides directly adjoining the 5'-side of the junction are at least 90% identical to intron 10 of the CFTR gene and at least twelve nucleotides directly adjoining the 3'-side of the junction are at least 90% identical to intron 6a of the CFTR gene, and b) at least a portion of exon 10 or exon 6b of the CFTR gene.

6. The isolated nucleic acid of claim 5 wherein the sequence of the junction region comprises the nucleotide sequence TABLE-US-00014 CATGGTGGG:CCCGGCCTA. (SEQ ID NO: 2)

7. The isolated nucleic acid of claim 5 wherein the sequence of the junction region comprises the nucleotide sequence TABLE-US-00015 GAGCATGGTGGG:CCCGGCCTAAAA. (SEQ ID NO: 3)

8. The isolated nucleic acid of claim 5 wherein the sequence of the junction region comprises the nucleotide sequence TABLE-US-00016 (SEQ ID NO: 4) GTGTAGTGAGCATGGTGGG:CCCGGCCTAAAAAATACTT.

9. The isolated nucleic acid of claim 1, wherein the at least twelve nucleotides directly adjoining the 5'-side of the junction are at least 95% identical to intron 10 of the CFTR gene and the at least twelve nucleotides directly adjoining the 3'-side of the junction are at least 95% identical to intron 6a of the CFTR gene.

10. The isolated nucleic acid of claim 1, wherein the at least twelve nucleotides directly adjoining the 5'-side of the junction are identical to intron 10 of the CFTR gene and the at least twelve nucleotides directly adjoining the 3'-side of the junction are identical to intron 6a of the CFTR gene.

11. The isolated nucleic acid of claim 5, wherein the at least twelve nucleotides directly adjoining the 5'-side of the junction are at least 95% identical to intron 10 of the CFTR gene and the at least twelve nucleotides directly adjoining the 3'-side of the junction are at least 95% identical to intron 6a of the CFTR gene.

12. The isolated nucleic acid of claim 5, wherein the at least twelve nucleotides directly adjoining the 5'-side of the junction are identical to intron 10 of the CFTR gene and the at least twelve nucleotides directly adjoining the 3'-side of the junction are identical to intron 6a of the CFTR gene.

Details for Patent 7,838,646

Applicant Tradename Biologic Ingredient Dosage Form BLA Approval Date Patent No. Expiredate
Merck Sharp & Dohme Corp. INTRON A interferon alfa-2b For Injection 103132 06/04/1986 ⤷  Try a Trial 2025-08-18
Merck Sharp & Dohme Corp. INTRON A interferon alfa-2b For Injection 103132 ⤷  Try a Trial 2025-08-18
Merck Sharp & Dohme Corp. INTRON A interferon alfa-2b Injection 103132 ⤷  Try a Trial 2025-08-18
>Applicant >Tradename >Biologic Ingredient >Dosage Form >BLA >Approval Date >Patent No. >Expiredate

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