PMID- 11479735
OWN - NLM
STAT- MEDLINE
DCOM- 20010920
LR  - 20220129
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 109
IP  - 1
DP  - 2001 Jul
TI  - Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes 
      and DNA fibers.
PG  - 48-54
AB  - Recent evidence has been provided that links duplicons (REP-P and REP-M) in 
      17q11.2 flanking the neurofibromatosis type 1 (NF1) gene to the breakpoints of 
      the NF1 microdeletion syndrome. The physical mapping and structural definition of 
      duplicated regions is often impossible by conventional approaches, and so we have 
      used high resolution fluorescence in situ hybridization (FISH) with 
      locus-specific probes of limited size on chromosomes stretched to different 
      degrees to identify novel duplicated genes and expressed sequence tags (ESTs) 
      mapping to 17q11.2. This approach has allowed us to detect and map duplications 
      of the BLMH and GOS28 genes, with one copy lying centromeric and one telomeric to 
      the NF1 gene, and an SHGC30113 transcript with one copy being adjacent and the 
      other distal to the NF1 3' untranslated region. Double-color FISH with a 
      BLMH-specific probe on stretched chromosomes showed that the telomeric BLMH 
      repeat lacked the 5' end of the gene and was 0.8 Mb from its centromeric copy. 
      The distance between the SHGC30113 repeats was estimated as being 500 kb by 
      double-color FISH on highly stretched chromosomes and DNA fibers. The latter 
      approach revealed adjacent SHGC30113-BLMH-specific signals relating to the 
      incomplete BLMH copy. The use of FISH on stretched chromosomes and, where 
      applicable DNA fibers, is a powerful tool for identifying and finely 
      characterizing duplicated regions whose mapping by the classical physical mapping 
      approach is often precluded.
FAU - Bentivegna, A
AU  - Bentivegna A
AD  - Department of Biology and Genetics, Medical Faculty, University of Milan, Via 
      Viotti 3/5, 20133 Milan, Italy.
FAU - Venturin, M
AU  - Venturin M
FAU - Gervasini, C
AU  - Gervasini C
FAU - Corrado, L
AU  - Corrado L
FAU - Larizza, L
AU  - Larizza L
FAU - Riva, P
AU  - Riva P
LA  - eng
GR  - E.0780/TI_/Telethon/Italy
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Chromosomes, Artificial, Yeast/genetics
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - DNA/genetics
MH  - Expressed Sequence Tags
MH  - *Gene Duplication
MH  - Genes, Neurofibromatosis 1
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
EDAT- 2001/08/02 10:00
MHDA- 2001/09/21 10:01
CRDT- 2001/08/02 10:00
PHST- 2001/03/19 00:00 [received]
PHST- 2001/04/30 00:00 [accepted]
PHST- 2001/08/02 10:00 [pubmed]
PHST- 2001/09/21 10:01 [medline]
PHST- 2001/08/02 10:00 [entrez]
AID - 10.1007/s004390100536 [doi]
PST - ppublish
SO  - Hum Genet. 2001 Jul;109(1):48-54. doi: 10.1007/s004390100536.