The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.

The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.

Date of Patent:
Oct. 23, 1990

Filed:

Jul. 31, 1986
Applicant:
Inventors:

Savio L Woo, Houston, TX (US);

Anthony G Dilella, Houston, TX (US);

Assignee:

Howard Hughes Medical Institute, Coconut Grove, FL (US);

Attorney:
Primary Examiner:
Assistant Examiner:
Int. Cl.
CPC ...
C12Q / ; C07H / ; C07H / ;
U.S. Cl.
CPC ...
435-6 ; 435810 ; 536 27 ; 536 28 ; 536 29 ; 935 77 ; 935 78 ;
Abstract

Disclosed is a method for detection of the mutation in phenylalanine hydroxylase genes. This method can be used for the detection of PKU affected, PKU heterozygotes and normals. Also disclosed are oligonucleotides synthesized to detect the first mutations identified in the human phenylalanine hydroxylase gene. The synthesized probes have base pair mismatches with genomic DNA to facilitate the diagnosis of normal and mutant phenylalanine hydroxylase genes. A simple method for detection of the genetic trait, PKU, without obtaining a previous family history of PKU is provided.


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