Claims for Patent: 6,955,875

Summary for Patent: 6,955,875

Title:	Mutations associated with iron disorders
Abstract:	The invention features a method of diagnosing an iron disorder, e.g., hemochromatosis, or a genetic susceptibility to developing such a disorder in a mammal by determining the presence of a mutation in exon 2 or in an intron of an HFE nucleic acid.
Inventor(s):	Rothenberg; Barry E. (Delmar, CA), Sawada-Hirai; Ritsuko (San Diego, CA), Barton; James C. (Birmingham, AL)
Assignee:	Billups-Rothenberg, Inc. (San Diego, CA)
Application Number:	09/981,606
Patent Claims:	1. A method of diagnosing an iron disorder or a genetic susceptibility to developing said disorder in a mammal, comprising determining the presence of a mutation in exon 2 of a histocompatibility iron loading (HFE) nucleic acid in a biological sample from said mammal, wherein said mutation is at position 193 of SEQ ID NO: 1 and is not a C.fwdarw.G substitution at nucleotide 187 of SEQ ID NO: 1 and wherein the presence of said mutation is indicative of said disorder or a genetic susceptibility to developing said disorder and wherein said determining step is carried out by nucleic acid hybridization on a microchip. 2. The method of claim 1, wherein said disorder is hemochromatosis. 3. The method of claim 1, wherein said mutation at position 193 of SEQ ID NO:1 is an A.fwdarw.T substitution. 4. The method of claim 1, wherein said mutation at position 193 is determined by contacting said HFE nucleic acid with a nucleic acid sequence comprising the nucleotide sequence of SEQ ID NO:30. 5. The method of claim 1, wherein said mutation at position 193 is determined by contacting said HFE nucleic acid with a nucleic acid sequence comprising nucleotides 67-339 of SEQ ID NO:1. 6. The method of claim 1, wherein said mutation at position 193 is determined by contacting said HFE nucleic acid with a nucleic acid sequence comprising nucleotides 172-204 of SEQ ID NO:1. 7. The method of claim 1, wherein said mutation at position 193 is detected by contacting said HFE nucleic acid with a nucleic acid sequence comprising nucleotides 4652-4915 of SEQ ID NO:27. 8. The method of claim 1, further comprising determining the presence of a mutation in exon 4 at nucleotide 845 of SEQ ID NO:1. 9. The method of claim 8, wherein said mutation at position 845 is determined by contacting said HFE nucleic acid with a nucleic acid sequence comprising nucleotides 6494-6769 of SEQ ID NO:27. 10. The method of claim 1, further comprising determining the presence of a mutation in intron 4 at nucleotide 6884 of SEQ ID NO:27. 11. The method of claim 10, wherein said mutation at position 6884 is determined by contacting said HFE nucleic acid with a nucleic acid sequence comprising nucleotides 6770-6927 of SEQ ID NO:27.

Details for Patent 6,955,875

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		2019-03-26
Merck Sharp & Dohme Corp.	INTRON A	interferon alfa-2b	For Injection	103132			2019-03-26
Merck Sharp & Dohme Corp.	INTRON A	interferon alfa-2b	Injection	103132			2019-03-26