An Apal RFLP for the human porphobilinogen deaminase gene (PBGD)
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چکیده
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 ...
متن کاملThe Mouse Porphobilinogen Deaminase Gene
The porphobilinogen deaminase gene encodes the third enzyme of the heme biosynthetic pathway. This gene is expressed in a tissue-specific manner and gives rise to two isoenzymatic forms encoded by mRNA species differing in their 5’ extremity. Recent studies in human demonstrated that the tissue-specific expression of the porphobilinogen deaminase gene is determined in erythropoietic cells, by t...
متن کاملHuman erythroid porphobilinogen deaminase exists in 2 splice variants.
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...
متن کاملStudies on porphobilinogen-deaminase from Saccharomyces cerevisiae.
Porphobilinogen-deaminase from Saccharomyces cerevisiae has been isolated and partially purified 80- and 230-fold in the absence or presence of phenylmethylsulphonyl fluoride, respectively. Some properties of the isolated enzyme were studied. Porphyrin formation was linear with time and protein concentration. Optimum pH was about 7.5-7.8. Molecular mass of the protein was 30,000 +/- 3000 Dalton...
متن کاملCis- and trans-acting elements involved in the regulation of the erythroid promoter of the human porphobilinogen deaminase gene.
Two cis-acting sequences, recognized by two erythroid-specific trans-acting factors, are involved in the regulation of the erythroid promoter of the human gene coding for porphobilinogen deaminase (PBGD). The first region, located at -70, binds the erythroid factor NF-E1, and point mutations within this region abolish the induction of transcription of this promoter during murine erythroleukemia...
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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 1991
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/19.16.4573-a