Literature DB >> 1914516

Assignment of human porphobilinogen deaminase to 11q24.1----q24.2 by in situ hybridization and gene dosage studies.

H Namba1, K Narahara, K Tsuji, Y Yokoyama, Y Seino.   

Abstract

In situ hybridization and gene dosage-effect studies were conducted to determine the detailed chromosomal location of the gene encoding human porphobilinogen deaminase (PBGD). Red cell PBGD activity was normal in one patient with monosomy for 11q24.2----qter but was increased 1.5 times in another patient with trisomy for 11q22.2----qter. The cDNA probe for PBGD was found to be specifically hybridized to band 11q24. These results suggest that the gene for PBGD is localized within the region 11q24.1----q24.2.

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Year:  1991        PMID： 1914516     DOI： 10.1159/000133123

Source DB:  PubMed          Journal:  Cytogenet Cell Genet        ISSN： 0301-0171


  10 in total

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Review 4.  Molecular genetics of disorders of haem biosynthesis.

Authors:  G H Elder
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Review 7.  Porphobilinogen deaminase gene structure and molecular defects.

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9.  Chromosomal localization of the human histone H2A.X gene to 11q23.2-q23.3 by fluorescence in situ hybridization.

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10.  Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.

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  10 in total

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