rdf:type |
|
lifeskim:mentions |
umls-concept:C0000744,
umls-concept:C0021920,
umls-concept:C0023473,
umls-concept:C0080279,
umls-concept:C0332466,
umls-concept:C0441587,
umls-concept:C1412097,
umls-concept:C1519249,
umls-concept:C1519595,
umls-concept:C1533148,
umls-concept:C1552913,
umls-concept:C1826328,
umls-concept:C1977882,
umls-concept:C2266681
|
pubmed:issue |
2
|
pubmed:dateCreated |
2004-9-29
|
pubmed:abstractText |
We found a case of Ph-positive chronic myelogenous leukemia (CML) patient with an atypical BCR-ABL transcript that was undetectable by a routine reverse transcription polymerase chain reaction (RT-PCR) for major BCR-ABL. Additional RT-PCR and sequence analyses have demonstrated that the aberrant transcript consists of a fusion of BCR exon 8 (e8) and ABL exon 2 (a2) with an insertion of a 55-bp inverted sequence of intron 1b between them. The nucleotide sequences of the aberrant transcript were identical to those of a previously reported CML patient. These are the only two CML cases in the literature with identical aberrant BCR-ABL transcripts.
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Oct
|
pubmed:issn |
0361-8609
|
pubmed:author |
|
pubmed:copyrightInfo |
Copyright 2004 Wiley-Liss, Inc.
|
pubmed:issnType |
Print
|
pubmed:volume |
77
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
164-6
|
pubmed:dateRevised |
2009-11-19
|
pubmed:meshHeading |
pubmed-meshheading:15389825-Aged,
pubmed-meshheading:15389825-Chromosome Inversion,
pubmed-meshheading:15389825-Exons,
pubmed-meshheading:15389825-Female,
pubmed-meshheading:15389825-Fusion Proteins, bcr-abl,
pubmed-meshheading:15389825-Humans,
pubmed-meshheading:15389825-Introns,
pubmed-meshheading:15389825-Leukemia, Myelogenous, Chronic, BCR-ABL Positive,
pubmed-meshheading:15389825-Molecular Sequence Data,
pubmed-meshheading:15389825-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:15389825-Sequence Analysis, DNA,
pubmed-meshheading:15389825-Transcription, Genetic
|
pubmed:year |
2004
|
pubmed:articleTitle |
Second case of CML with aberrant BCR-ABL fusion transcript (e8/a2) with insertion of an inverted ABL intron 1b sequence.
|
pubmed:affiliation |
Clinical Research Division, Hyogo Medical Center for Adults, Akashi, Japan.
|
pubmed:publicationType |
Journal Article,
Case Reports
|