Diagnosis of premature ovarian failure

• US 6,787,311 B1
• Filed: 08/15/2001
• Issued: 09/07/2004
• Est. Priority Date: 02/25/1999
• Status: Expired due to Fees

• Current Assignee: Auckland UniServices Limited (Auckland University)
• Original Assignee: Auckland UniServices Limited (Auckland University)
• Inventors: Shelling, Andrew N.
• Primary Examiner(s): Johannsen, Diana B.
• Application Number:
  US09/913,524
• Time in Patent Office: 1,119 Days
• Field of Search: 435/6, 435/19, 435/91.5, 435/91.51, 536/23.5, 536/25.32, 530/350, 436/89
• US Class Current: 435/6.11
• CPC Class Codes: A61K 38/22 Hormones derived from pro-opiomelanocortin, pro-enkephalin or pro-dynorphin A61K38/33, e.g. corticotropin A61K38/35
• CPC Class Codes: A61K 48/00 Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
• CPC Class Codes: A61P 15/12 for climacteric disorders
• CPC Class Codes: A61P 35/00 Antineoplastic agents
• CPC Class Codes: C12Q 1/6883 for diseases caused by alterations of genetic material
• CPC Class Codes: C12Q 1/6886 for cancer immunoassay for cancer G01N33/574
• CPC Class Codes: C12Q 2600/156 Polymorphic or mutational markers

Abstract

Methods by which a predisposition to Premature Ovarian failure (POF) can be determined. In particular, methods are provided for detecting whether a female has a predisposition to POF with reference to an alteration (mutation) in the gene coding inhibin.

Claims

1. A method of testing to detect whether a human female subject is predisposed to Premature Ovarian Failure (POF), the method comprising at least a step of detecting the nucleotide present at position 769 of the gene encoding inhibin alpha in said subject, wherein the presence of an A at said position is indicative of a predisposition to POF.

2. The method of claim 1, wherein said nucleotide is detected by analysis of DNA.

3. The method of claim 1, wherein said nucleotide is detected by analysis of RNA.

4. The method of claim 1, wherein said nucleotide is detected by nucleotide sequencing.

5. The method of claim 1, wherein said nucleotide is detected by Restriction Fragment Length Polymorphism (RFLP) analysis using the restriction enzyme Bst71I.

6. A method of testing to detect whether a human female subject is predisposed to Premature Ovarian Fallure (POF), the method comprising at least a step of detecting the amino acid present at position 257 of inhibin alpha, wherein the presence of threonine at said position is indicative of a predisposition to POF.

7. The method of claim 6, wherein said amino acid is detected by amino acid sequencing.