PMID- 7949101
OWN - NLM
STAT- MEDLINE
DCOM- 19941220
LR  - 20210216
IS  - 0006-4971 (Print)
IS  - 0006-4971 (Linking)
VI  - 84
IP  - 10
DP  - 1994 Nov 15
TI  - Fluorescence in situ hybridization mapping of translocations and deletions 
      involving the short arm of human chromosome 12 in malignant hematologic diseases.
PG  - 3473-82
AB  - Translocations and deletions of the short arm of chromosome 12 [t(12p) and 
      del(12p)] are common recurring abnormalities in a broad spectrum of hematologic 
      malignant diseases. We studied 20 patients and one cell line whose cells 
      contained 12p13 translocations and/or 12p deletions using fluorescence in situ 
      hybridization (FISH) with phage, plasmid, and cosmid probes that we previously 
      mapped and ordered on 12p12-13. FISH analysis showed that the 12p13 translocation 
      breakpoints were clustered between two cosmids, D12S133 and D12S142, in 11 of 12 
      patients and in one cell line. FISH analysis of 11 patients with deletions 
      demonstrated that the deletions were interstitial rather than terminal and that 
      the distal part of 12p12, including the GDI-D4 gene and D12S54 marker, was 
      deleted in all 11 patients. Moreover, FISH analysis showed that cells from 3 of 
      these patients contained both a del(12p) and a 12p13 translocation and that the 
      affected regions of these rearrangements appeared to overlap. We identified three 
      yeast artificial chromosome (YAC) clones that span all the 12p13 translocation 
      breakpoints mapped between D12S133 and D12S142. They have inserts of human DNA 
      between 1.39 and 1.67 Mb. Because the region between D12S133 and D12S142 also 
      represents the telomeric border of the smallest commonly deleted region of 12p, 
      we also studied patients with a del(12p) using these YACs. The smallest YAC, 
      964c10, was deleted in 8 of 9 patients studied. In the other patient, the YAC 
      labeled the del(12p) chromosome more weakly than the normal chromosome 12, 
      suggesting that a part of the YAC was deleted. Thus, most 12p13 translocation 
      breakpoints were clustered within the sequences contained in the 1.39 Mb YAC and 
      this YAC appears to include the telomeric border of the smallest commonly deleted 
      region. Whether the same gene is involved in both the translocations and 
      deletions is presently unknown.
FAU - Kobayashi, H
AU  - Kobayashi H
AD  - Department of Medicine, University of Chicago, IL.
FAU - Montgomery, K T
AU  - Montgomery KT
FAU - Bohlander, S K
AU  - Bohlander SK
FAU - Adra, C N
AU  - Adra CN
FAU - Lim, B L
AU  - Lim BL
FAU - Kucherlapati, R S
AU  - Kucherlapati RS
FAU - Donis-Keller, H
AU  - Donis-Keller H
FAU - Holt, M S
AU  - Holt MS
FAU - Le Beau, M M
AU  - Le Beau MM
FAU - Rowley, J D
AU  - Rowley JD
LA  - eng
GR  - CA40046/CA/NCI NIH HHS/United States
GR  - CA42577/CA/NCI NIH HHS/United States
GR  - HG00965/HG/NHGRI NIH HHS/United States
GR  - etc.
PT  - Clinical Trial
PT  - Controlled Clinical Trial
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Blood
JT  - Blood
JID - 7603509
SB  - IM
GS  - GDI-D4
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Bone Marrow/pathology
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosome Mapping
MH  - Chromosomes, Artificial, Yeast
MH  - *Chromosomes, Human, Pair 12
MH  - Female
MH  - Gene Rearrangement
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Leukemia/blood/*genetics/pathology
MH  - Lymph Nodes/pathology
MH  - Lymphoma, Non-Hodgkin/blood/genetics/pathology
MH  - Male
MH  - Middle Aged
MH  - Myelodysplastic Syndromes/blood/genetics/pathology
MH  - Telomere
MH  - *Translocation, Genetic
EDAT- 1994/11/15 00:00
MHDA- 1994/11/15 00:01
CRDT- 1994/11/15 00:00
PHST- 1994/11/15 00:00 [pubmed]
PHST- 1994/11/15 00:01 [medline]
PHST- 1994/11/15 00:00 [entrez]
AID - S0006-4971(20)73928-5 [pii]
PST - ppublish
SO  - Blood. 1994 Nov 15;84(10):3473-82.