PMID- 8602997
OWN - NLM
STAT- MEDLINE
DCOM- 19960515
LR  - 20190705
IS  - 0007-1048 (Print)
IS  - 0007-1048 (Linking)
VI  - 92
IP  - 2
DP  - 1996 Feb
TI  - The thrombin receptor gene is centromeric to the common proximal breakpoint in 
      patients with the 5q- syndrome: identification of a previously unrecognized 
      chromosome 5 inversion.
PG  - 339-43
AB  - The human thrombin receptor (TR) gene has previously been localized to band q13 
      of chromosome 5, a site that is at or contiguous with the common proximal 
      breakpoint site identified in the majority of patients with the 5q- syndrome 
      (dysmegakaryocytopoiesis and refractory anaemia). Since thrombin has putative 
      effects on the growth and differentiation of megakaryocytes, we hypothesized that 
      the phenotypic abnormalities in megakaryocytopoiesis observed in the 5q- syndrome 
      may be partially explained by involvement of the TR gene in the interstitial 
      deletion. We have utilized molecular and fluorescence in situ hybridization 
      (FISH) analysis to study potential cytogenetic abnormalities of the thrombin 
      receptor gene in patients demonstrating this abnormality. Dual-label FISH with a 
      q12-specific genomic fragment and the TR gene was completed using interphase and 
      metaphase cells from seven patients with a del(5)(q13q33). Our data demonstrate 
      that the TR gene is located on the centromeric side of the common proximal 
      breakpoint, and is grossly present in all patients with the affected 5q- 
      chromosome. In addition, one of the seven patients demonstrated a small proximal 
      rearrangement, most likely representing a paracentric inversion, which was not 
      apparent by conventional cytogenetic techniques. The significance of these 
      alterations is discussed.
FAU - Demetrick, D J
AU  - Demetrick DJ
AD  - Cold Spring Harbor Laboratory, New York, USA.
FAU - Dewald, G W
AU  - Dewald GW
FAU - Lanman, J
AU  - Lanman J
FAU - Bahou, W F
AU  - Bahou WF
LA  - eng
GR  - HL-02431/HL/NHLBI NIH HHS/United States
GR  - HL49141/HL/NHLBI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Br J Haematol
JT  - British journal of haematology
JID - 0372544
RN  - 0 (Receptors, Thrombin)
SB  - IM
MH  - Aged
MH  - Aged, 80 and over
MH  - Anemia, Refractory/*genetics
MH  - Centromere
MH  - *Chromosome Inversion
MH  - *Chromosomes, Human, Pair 5
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia, Megakaryoblastic, Acute/*genetics
MH  - Receptors, Thrombin/*genetics
EDAT- 1996/02/01 00:00
MHDA- 1996/02/01 00:01
CRDT- 1996/02/01 00:00
PHST- 1996/02/01 00:00 [pubmed]
PHST- 1996/02/01 00:01 [medline]
PHST- 1996/02/01 00:00 [entrez]
AID - 10.1046/j.1365-2141.1996.d01-1504.x [doi]
PST - ppublish
SO  - Br J Haematol. 1996 Feb;92(2):339-43. doi: 10.1046/j.1365-2141.1996.d01-1504.x.