NDLI: Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome.

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Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome.

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Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Morse, H. G. Rabin, M. Kao, F. T. Woo, S. L. Lidsky, A. S. Law, M. L. Ruddle, F. H.
Abstract	Phenylketonuria (PKU) is an autosomal recessive disorder of amino acid metabolism caused by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH; phenylalanine 4-monooxygenase, EC 1.14.16.1). A cDNA clone for human PAH has previously been used to assign the corresponding gene to human chromosome 12. 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 125I-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.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	18
Volume Number	82
Language	English
Publisher	National Academy of Sciences
Publisher Date	1985-10-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Chromosomes, Human, 6-12 And X Phenylalanine Hydroxylase Genetics Phenylketonurias Chromosome Mapping Genes Hybrid Cells Isoenzymes Nucleic Acid Hybridization Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S. Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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