Claims for Patent: 7,041,450
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Summary for Patent: 7,041,450
Title: | Method for diagnosing GH deficiency |
Abstract: | The present invention relates to a method and kit for diagnosing GH (growth hormone) deficiency, in particular isolated growth hormone deficiency II (IGHD II). The method comprises the steps of analysing the missense mutation G.sup.6191 to T in exon 4 of GH-1 which changes valine 110 to phenylalanine. |
Inventor(s): | Ranke; Michael (Tubingen, DE) |
Assignee: | Pharmacia AB (Uppsala, SE) |
Application Number: | 10/137,578 |
Patent Claims: | 1. A method for diagnosis of autosomal dominantly inherited isolated GH deficiency (IGHD II) in a patient, comprising directly analyzing a nucleic acid sample provided
from the patient for the presence or absence of a T at nucleotide position 6191 in exon 4 of the GH-1 gene, and determining that the patient from which the sample is provided has autosomal inherited IGHD II when a T is present at nucleotide position 6191
in exon 4 of the GH-1 gene.
2. A method according to claim 1, also comprising analyzing the sample for the presence or absence of a GH-1 splice site mutation causing skipping of exon 3 of the GH-1 gene. 3. A method according to claim 2, wherein the splice site mutation is +2T to C transition of the second base of the intron 3 donor splice site. 4. A method according to claim 1, wherein the sample is from a patient having a normal size of adenohypophysis. 5. A method according to claim 1, wherein the directly analyzing step comprises amplifying the GH-1 gene or fragments derived from the GH-1 gene. 6. A method according to claim 5, wherein intron 3 and/or exon 2 5 are amplified. 7. A method according to claim 5, wherein the amplifying step comprises PCR amplification of the GH-1 gene and nested PCR of overlapping constituent fragments of the GH-1 gene. 8. A method according to claim 1, wherein the directly analyzing step comprises restriction enzyme digesting amplified fragments. 9. A method according to claim 5, wherein the directly analyzing step further comprises sequencing of amplified fragments. 10. A method according to claim 7, wherein the amplifying step is conducted with one or more specific GH-1 primer pairs wherein the primers are selected from the group consisting of GH3.2 (nt 6578 6600), of the GH1 gene GH5.1 (nt 5503 5525); of the GH1 gene GH5.2 (nt 5555 55 77), of the GH1 gene GH3.4 (nt 6547 6568); of the GH1 gene GH5.7 (nt 5816 5835), of the GH1 gene and GH3.7 (nt 6121 6140) of the GH1 gene. 11. A method according to claim 9, wherein the sequencing is conducted with the sequencing primers GS5.8 (nt 5629 5648), of the GH1 gene and GS3.8 (nt 6495 6515) of the GH1 gene. 12. A method according to claim 8, wherein the digesting is conducted with one or more of the restriction enzymes MvnII, NIaIII, DdeI, and MaeII. 13. A method according to claim 2, wherein the directly analyzing step comprises amplifying the GH-1 gene or fragments derived from the GH-1 gene. 14. A method according to claim 3, wherein the directly analyzing step comprises amplifying the GH-1 gene of the patient from which the sample is obtained or fragments derived from the GH-1 gene. 15. A method according to claim 6, wherein the amplifying step comprises PCR amplification of the GH-1 gene and nested PCR of overlapping constituent fragments of the GH-1 gene. 16. A method according to claim 13, wherein the amplifying step is conducted with one or more specific GH-1 primer pairs wherein the primers are selected from the group consisting of GH3.2 (nt 6578 6600), of the GH1 gene GH5.1 (nt 5503 5525); of the GH1 gene GH5.2 (nt 5555 5577), of the GH1 gene GH3.4 (nt 6547 6568); of the GH1 gene GH5.7 (nt 5816 5835), of the GH1 gene and GH3.7 (nt 6121 6140) of the GH1 gene. 17. A method according to claim 15, wherein the amplifying step is conducted with one or more specific GH-1 primer pairs wherein the primers are selected from the group consisting of GH3.2 (nt 6578 6600), of the GH1 gene GH5.1 (nt 5503 5525); of the GH1 gene GH5.2 (nt 5555 5577), of the GH1 gene GH3.4 (nt 6547 6568); of the GH1 gene GH5.7 (nt 5816 5835), of the GH1 gene and GH3.7 (nt 6121 6140) of the GH1 gene. |
Details for Patent 7,041,450
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 | 2021-05-02 |
Merck Sharp & Dohme Corp. | INTRON A | interferon alfa-2b | For Injection | 103132 | ⤷ Try a Trial | 2021-05-02 | |
Merck Sharp & Dohme Corp. | INTRON A | interferon alfa-2b | Injection | 103132 | ⤷ Try a Trial | 2021-05-02 | |
>Applicant | >Tradename | >Biologic Ingredient | >Dosage Form | >BLA | >Approval Date | >Patent No. | >Expiredate |
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