PMID- 9829273
OWN - NLM
STAT- MEDLINE
DCOM- 19990204
LR  - 20191024
IS  - 0960-8966 (Print)
IS  - 0960-8966 (Linking)
VI  - 8
IP  - 7
DP  - 1998 Oct
TI  - Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in 
      situ hybridization.
PG  - 447-52
AB  - Two-thirds of patients affected by Duchenne or Becker muscular dystrophy 
      (DMD/BMD) carry large intra-genic deletions in the dystrophin gene. In males, the 
      deletions can be efficiently detected using multiplex polymerase chain reaction 
      (PCR) and Southern blotting. In contrast, deletion detection in carrier females 
      is complicated by the presence of a normal gene copy on the second X-chromosome. 
      We have analyzed the boundaries of 570 deletions and 34 duplications in the 
      dystrophin gene identified in the Sao Paulo and Leiden diagnostic laboratories. 
      The data were used to select an optimal set of cosmid probes for the detection of 
      the most frequently deleted areas of the dystrophin gene. Six cosmids were 
      evaluated in fluorescence in situ hybridization (FISH) experiments to assess 
      deletions in 21 heterozygous deletion-carriers and nine controls. No discrepancy 
      was found between the FISH analysis and the molecular data, demonstrating the 
      accuracy of the technique for carrier detection in Duchenne and Becker muscular 
      dystrophy.
FAU - Rosenberg, C
AU  - Rosenberg C
AD  - Department of Biology, Bioscience Institute, University of Sao Paulo, Brazil.
FAU - Navajas, L
AU  - Navajas L
FAU - Vagenas, D F
AU  - Vagenas DF
FAU - Bakker, E
AU  - Bakker E
FAU - Vainzof, M
AU  - Vainzof M
FAU - Passos-Bueno, M R
AU  - Passos-Bueno MR
FAU - Takata, R I
AU  - Takata RI
FAU - Van Ommen, G J
AU  - Van Ommen GJ
FAU - Zatz, M
AU  - Zatz M
FAU - Den Dunnen, J T
AU  - Den Dunnen JT
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Neuromuscul Disord
JT  - Neuromuscular disorders : NMD
JID - 9111470
RN  - 0 (DNA Probes)
RN  - 0 (Dystrophin)
SB  - IM
MH  - DNA Probes
MH  - Dystrophin/*genetics
MH  - Exons/genetics
MH  - Gene Deletion
MH  - Genes/*genetics
MH  - Heterozygote
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Muscular Dystrophies/diagnosis/*genetics
EDAT- 1998/11/26 00:00
MHDA- 1998/11/26 00:01
CRDT- 1998/11/26 00:00
PHST- 1998/11/26 00:00 [pubmed]
PHST- 1998/11/26 00:01 [medline]
PHST- 1998/11/26 00:00 [entrez]
AID - S0960-8966(98)00050-9 [pii]
AID - 10.1016/s0960-8966(98)00050-9 [doi]
PST - ppublish
SO  - Neuromuscul Disord. 1998 Oct;8(7):447-52. doi: 10.1016/s0960-8966(98)00050-9.