Methods for the identification of mutations in the human phenyla

Details Methods for the identification of mutations in the human phenyla Methods for the identification of mutations in the human phenyla

1986-07-31

1990-10-23

Griffin, Ronald W.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435810, 536 27, 536 28, 536 29, 935 77, 935 78, C12Q 168, C07H 19073, C07H 19173

Patent

active

049651900

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.

REFERENCES:
Kwok et al, Biochemistry, vol. 24, pp. 556-561, 1985.
Chistkons et al, Vopr. Med. Khim., vol. 32, pp. 7-12, 1986.
Botstein et al., Am. J. Hum Genet., vol. 32, pp. 314-331 1980.
Speer et al, Preatal Diagnosis, vol. 6, pp. 447-450 (1986).

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