26395.doc

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Step 1
Primary chromosomal rearrangements of leukemia are
frequently accompanied by extensive submicroscopic
deletions and may lead to altered prognosis.
‫عنوان الوثيقة‬
Document (
)Title
BCR/ABL fluorescent in situ hybridization study of chronic myeloid leukemia
(CML) and Philadelphia(+) (Ph(+)) acute lymphoid leukemia (ALL) indicated that
approximately 9% of patients exhibited an atypical hybridization pattern consistent
with a submicroscopic deletion of the 5' region of ABL and the 3' region of the
BCR genes on the 9q(+) chromosome. The CML patients with deletions had a
shorter survival time and a high relapse rate following bone marrow transplant.
Since deletions are associated with both Ph(+) CML and ALL, it seemed probable
that other leukemia-associated genomic rearrangements may also have
submicroscopic deletions. This hypothesis was confirmed by the detection of
deletions of the 3' regions of the CBFB and the MLL genes in AML M4 patients
with inv(16) and in patients with ALL and AML associated with MLL gene
translocations, respectively. In contrast, analysis of the AML M3 group of patients
and AML M2 showed that similar large deletions were not frequently associated
with the t(15;17) or t(8;21) translocations. Analysis of sequence data from each of
the breakpoint regions suggested that large submicroscopic deletions occur in
regions with a high overall density of Alu sequence repeats. These findings are
the first to show that the process of deletion formation is not disease specific in
leukemia and also implicate that the presence of repetitive DNA in the vicinity of
breakpoint regions may facilitate the generation of submicroscopic deletions.
Such deletions could lead to the loss of one or more genes, and the associated
haploinsufficiency may result in the observed differences in clinical behavior.
(Blood. 2001;97:3581-3588)
‫المستخلص‬
)Abstract(
PMID: 11369654 [PubMed - indexed for MEDLINE]
Blood.
1;97
11
2001 Jun
3581-8
)ISSN( ‫ردمد‬
‫اسم الدورية‬
)Journal Name(
)Volume( ‫المجلد‬
‫العدد‬
)Issue Number(
‫سنة النشر‬
Publishing (
)Year
‫الصفحات‬
)Pages(
Step 2
Jaudah
Al-Maghrabi
Department of Pathology, King Abdul-Aziz University Hospital, Jeddah,
Kingdom of Saudi Arabia.
jalmaghrabi@hotmail.com
‫االسم األول للباحث‬
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researcher
‫االسم األخير للباحث‬
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)Address)
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