Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome
Phenylketonuria (PKU) is an autosomal recessive disorder of amino acid metabolism caused by a deficiency of the hepatic enzyme phenylalanine hydroxylase. To define the regional map position of the disease locus and the PAH gene on human chromosome 12, DNA was isolated from human-hamster somatic cell hybrids with various deletions of human chromosome 12 and was analyzed by Southern blot analysis using the human cDNA PAH clone as a hybridization probe. From these results, together with detailed biochemical and cytogenetic characterization of the hybrid cells, the region on chromosome 12 containing the human PAH gene has been defined as 12q14.3..-->..qter. The PAH map position on chromosome 12 was further localized by in situ hybridization of /sup 125/I-labeled human PAH cDNA to chromosomes prepared from a human lymphoblastoid cell line. Results of these experiments demonstrated that the region on chromosome 12 containing the PAH gene and the PKU locus in man is 12q22..-->..12q24.1. These results not only provide a regionalized map position for a major human disease locus but also can serve as a reference point for linkage analysis with other DNA markers on human chromosome 12.
- Research Organization:
- Baylor College of Medicine, Houston, TX
- OSTI ID:
- 6170935
- Journal Information:
- Proc. Natl. Acad. Sci. U.S.A.; (United States), Journal Name: Proc. Natl. Acad. Sci. U.S.A.; (United States) Vol. 82:18; ISSN PNASA
- Country of Publication:
- United States
- Language:
- English
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59 BASIC BIOLOGICAL SCIENCES
AMINO ACIDS
ANIMALS
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
BIOLOGY
CARBOXYLIC ACIDS
CELL CONSTITUENTS
CHROMOSOMES
CLONING
DAYS LIVING RADIOISOTOPES
DISEASES
DNA
DNA-CLONING
ELECTRON CAPTURE RADIOISOTOPES
ENZYMES
GENETIC MAPPING
GENETICS
HAMSTERS
HEREDITARY DISEASES
HYBRIDIZATION
HYDROXY ACIDS
HYDROXYLASES
INTERMEDIATE MASS NUCLEI
IODINE 125
IODINE ISOTOPES
ISOTOPE APPLICATIONS
ISOTOPES
LIGHT NUCLEI
MAMMALS
MAN
MAPPING
METABOLIC DISEASES
NUCLEI
NUCLEIC ACIDS
ODD-EVEN NUCLEI
ODD-ODD NUCLEI
ORGANIC ACIDS
ORGANIC COMPOUNDS
OXIDOREDUCTASES
PHENYLALANINE
PHOSPHORUS 32
PHOSPHORUS ISOTOPES
PLASMIDS
PRIMATES
RADIOISOTOPES
RECOMBINANT DNA
RODENTS
TRACER TECHNIQUES
TYROSINE
VERTEBRATES