rdf:type |
|
lifeskim:mentions |
umls-concept:C0002085,
umls-concept:C0040676,
umls-concept:C0079941,
umls-concept:C0086418,
umls-concept:C0178499,
umls-concept:C0205088,
umls-concept:C0205171,
umls-concept:C0449560,
umls-concept:C0596260,
umls-concept:C0805701,
umls-concept:C1257890,
umls-concept:C1274040,
umls-concept:C1442161,
umls-concept:C1514562,
umls-concept:C1524062,
umls-concept:C1880022,
umls-concept:C1880389,
umls-concept:C1883204,
umls-concept:C1883221
|
pubmed:issue |
1
|
pubmed:dateCreated |
1992-10-7
|
pubmed:databankReference |
|
pubmed:abstractText |
We have identified a possible mutation which characterizes A2 alleles (a minor subtype of A) at the human histo-blood group ABO locus based on polymerase chain reaction (PCR) of genomic DNA, followed by nucleotide sequencing of the amplified fragments. The A2 subtype has a single base deletion near the carboxyl terminal. As a result of frame-shifting, A2 transferase possesses an extra domain. Introduction of this single base deletion into the A1 transferase cDNA expression construct drastically decreased the A transferase activity in DNA-transfected HeLa cells.
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Aug
|
pubmed:issn |
0006-291X
|
pubmed:author |
|
pubmed:issnType |
Print
|
pubmed:day |
31
|
pubmed:volume |
187
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
366-74
|
pubmed:dateRevised |
2006-11-15
|
pubmed:meshHeading |
pubmed-meshheading:1520322-Alleles,
pubmed-meshheading:1520322-Amino Acid Sequence,
pubmed-meshheading:1520322-Base Sequence,
pubmed-meshheading:1520322-Chromosome Deletion,
pubmed-meshheading:1520322-DNA,
pubmed-meshheading:1520322-DNA, Recombinant,
pubmed-meshheading:1520322-Exons,
pubmed-meshheading:1520322-Fucosyl Galactose alpha-N-Acetylgalactosaminyltransferase,
pubmed-meshheading:1520322-HeLa Cells,
pubmed-meshheading:1520322-Humans,
pubmed-meshheading:1520322-Molecular Sequence Data,
pubmed-meshheading:1520322-Mutagenesis,
pubmed-meshheading:1520322-Polymerase Chain Reaction,
pubmed-meshheading:1520322-Transfection
|
pubmed:year |
1992
|
pubmed:articleTitle |
Human histo-blood group A2 transferase coded by A2 allele, one of the A subtypes, is characterized by a single base deletion in the coding sequence, which results in an additional domain at the carboxyl terminal.
|
pubmed:affiliation |
Biomembrane Institute, Seattle, WA 98119.
|
pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
|