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Hereditary hemochromatosis diagnostic markers and diagnostic methods

Patent 5712098 Issued on January 27, 1998. Estimated Expiration Date: Icon_subject April 16, 2016. Estimated Expiration Date is calculated based on simple USPTO term provisions. It does not account for terminal disclaimers, term adjustments, failure to pay maintenance fees, or other factors which might affect the term of a patent.

Inventors

Assignee

Application

No. 632673 filed on 04/16/1996

US Classes:

435/6, Involving nucleic acid536/23.5, Encodes an animal polypeptide536/24.3Probes for detection of specific nucleotide sequences or primers for the synthesis of DNA or RNA

Examiners

Primary: Guzo, David
Assistant: Sandals, William

Attorney, Agent or Firm

International Classes

C12Q 001/68
C07H 021/04

Abstract

A single base-pair polymorphism involving a mutation from Guanine (G), in individuals unaffected by the hereditary hemochromatosis (HH) gene defect, to Adeninc (A), in individuals affected by the HH gene defect is disclosed. The presence or absence of the polymorphic allele is highly predictive of whether an individual is at risk from HH: the polymorphism is present in 82% of affected individuals and only 4% of a random population screen. Methods of diagnosis, markers, and primers are disclosed and claimed in accordance with the present invention.

Other References

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