PMID- 8563757
OWN - NLM
STAT- MEDLINE
DCOM- 19960305
LR  - 20131121
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 12
IP  - 2
DP  - 1996 Feb
TI  - Chromosomal localization of long trinucleotide repeats in the human genome by 
      fluorescence in situ hybridization.
PG  - 183-5
AB  - Trinucleotide microsatellites are widespread in the human and other mammalian 
      genomes. Expansions of unstable trinucleotide repeats have been associated so far 
      with a number of different genetic diseases including fragile X, myotonic 
      dystrophy (DM) and Huntington disease. While ten possible trinucleotides can 
      occur at the DNA level, only CTG and CCG repeats are involved in the disorders 
      described so far. However, the repeat expansion detection (RED) technique has 
      identified additional large repeats of ATG, CCT, CTT, and TGG of potentially 
      pathological significance in the human genome. We now show that conclusive 
      information about the chromosomal localization of long trinucleotide repeats can 
      be achieved in a relatively short time using fluorescence in situ hybridization 
      (FISH) with biotin-labelled trinucleotide polymers. Large CTG expansions (> 1 kb) 
      in DM and an unstable (CTG)306 repeat in a patient with schizophrenia were 
      detected by eye through the microscope without electronic enhancement. Digital 
      imaging was used to analyse the chromosomal distribution of long CCA and AGG 
      repeats. Our results suggest that long trinucleotide repeats occur in the normal 
      human genome and that the size of individual repeat loci may be polymorphic.
FAU - Haaf, T
AU  - Haaf T
AD  - Max-Planck-Institute of Molecular Genetics, Berlin, Germany.
FAU - Sirugo, G
AU  - Sirugo G
FAU - Kidd, K K
AU  - Kidd KK
FAU - Ward, D C
AU  - Ward DC
LA  - eng
GR  - MH-30929/MH/NIMH NIH HHS/United States
GR  - MH-39239/MH/NIMH NIH HHS/United States
GR  - MH-50390/MH/NIMH NIH HHS/United States
GR  - etc.
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (DNA Probes)
RN  - 6SO6U10H04 (Biotin)
SB  - IM
MH  - Base Sequence
MH  - Biotin
MH  - Chromosome Mapping/*methods
MH  - DNA Probes
MH  - Genome
MH  - Humans
MH  - Image Processing, Computer-Assisted
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Molecular Sequence Data
MH  - Schizophrenia, Paranoid/genetics
MH  - Trinucleotide Repeats/*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 - 10.1038/ng0296-183 [doi]
PST - ppublish
SO  - Nat Genet. 1996 Feb;12(2):183-5. doi: 10.1038/ng0296-183.