A PstI polymorphism for the human porphobilinogen deaminase gene (PBG)
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منابع مشابه
A PstI polymorphism for the human porphobilinogen deaminase gene (PBG).
SOURCE/DESCRIPTION : A 1.7 kb Eco RI-Taq I fragment was used as a probe. This fraciment was isolated from pUSE 109 containing a 7 kb Eco RI genomic fragment from the human porphobilinogen(PBG) deaminase(EC 4.1.3.8.) gene. (1) POLYMORPHISM : Pst I digests of human genomic DNA were hybridized to the probe. This presented a two ailele polymorphism with bands of 2.2 kb(A1), 1.4 kb(A2) and constant ...
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SOURCE/DESCRIPTION: pEl was subcloned from the cosmid pcosEMBLaAT(ref .1) and contains a 9.6kb-fragment of the cosmid extending from the EcoRI-site in in-tron A to an EcoRI-site 2.5kb 3' of the «-antitrypsin gene.Vector is pBR322. POLYMORPHISM: PstI identifies a 2-allele system with alternative bands at 5.0kb (PI) and at 3.2kb (P2) for a site within the a.-antitrypsin-like gene. Several constan...
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Human porphobilinogen deaminase (PBGD) is, reportedly, encoded by 2 distinct messenger RNAs (mRNAs) transcribing from a single gene. The ubiquitous form of the PBGD gene product is often used as an endogenous reference in gene expression studies because it is pseudogene free and has minimal transcriptional variability among tissues. A distinct erythroid-specific gene product has also been descr...
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The porphyrias arise from predominantly inherited catalytic deficiencies of specific enzymes in heme biosynthesis. All genes encoding these enzymes have been cloned and several mutations underlying the different types of porphyrias have been reported. Traditionally, the diagnosis of porphyria is made on the basis of clinical symptoms, characteristic biochemical findings, and specific enzyme ass...
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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 1987
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/15.15.6307