Structural integrity of the human albumin gene in congenital analbuminemia.
The human serum albumin gene was analyzed by restriction endonuclease mapping of chromosomal DNA isolated from a patient with congenital analbuminemia. Following digestion with a variety of restriction endonucleases, the DNA from this individual produced the same fragments with homology to a serum albumin cDNA probe as did a control DNA specimen. Therefore, the genetic condition of congenital analbuminemia is not caused by any gross structural rearrangement or deletion of the gene itself, but may result from an abnormality in the gene's fine structure, perhaps affecting regulation or processing of the primary RNA transcript.
D001483:Base Sequence; D001798:Blood Proteins / Q000302:isolation & purification; D004262:DNA Restriction Enzymes; D005796:Genes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009693:Nucleic Acid Hybridization; D014176:Protein Biosynthesis; D012709:Serum Albumin / Q000172:deficiency / Q000235:genetics*
D001798:Blood Proteins; D012709:Serum Albumin; D004262:DNA Restriction Enzymes