PMID- 10854113
OWN - NLM
STAT- MEDLINE
DCOM- 20000901
LR  - 20061115
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 8
IP  - 4
DP  - 2000 Apr
TI  - Identification of female carriers for Duchenne and Becker muscular dystrophies 
      using a FISH-based approach.
PG  - 293-8
AB  - Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are 
      X-linked recessive neuromuscular diseases caused by dystrophin gene mutations. 
      Deletions, or more rarely duplications, of single or multiple exons within the 
      dystrophin gene can be detected by current molecular methods in approximately 65% 
      of DMD patients. Mothers of affected males have a two-thirds chance of carrying a 
      dystrophin mutation, whilst approximately one-third of affected males have de 
      novo mutations. Currently, Southern blot analysis and multiplex PCR directed 
      against exons in deletion hot spots are used to determine female carrier status. 
      However, both of these assays depend on dosage assessment to accurately identify 
      carriers since, in females, the normal X chromosome is also present. To obviate 
      quantitation of gene dosage, we have developed exon-specific probes from the 
      dystrophin gene and applied them to a screen for potential carrier females using 
      fluorescence in situ hybridization (FISH). Cosmid clones, representing 16 exons, 
      were identified and used in FISH analysis of DMD/BMD families. Our preliminary 
      work has identified multiple, informative probes for several families with 
      dystrophin deletions and has shown that a FISH-based assay can be an effective 
      and direct method for establishing the DMD/BMD carrier status of females.
FAU - Ligon, A H
AU  - Ligon AH
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX 77030, USA.
FAU - Kashork, C D
AU  - Kashork CD
FAU - Richards, C S
AU  - Richards CS
FAU - Shaffer, L G
AU  - Shaffer LG
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 0 (Dystrophin)
SB  - IM
MH  - Dystrophin/genetics
MH  - Family Health
MH  - Female
MH  - Gene Deletion
MH  - *Heterozygote
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Muscular Dystrophy, Duchenne/*genetics
EDAT- 2000/06/15 09:00
MHDA- 2000/09/09 11:01
CRDT- 2000/06/15 09:00
PHST- 2000/06/15 09:00 [pubmed]
PHST- 2000/09/09 11:01 [medline]
PHST- 2000/06/15 09:00 [entrez]
AID - 10.1038/sj.ejhg.5200450 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 2000 Apr;8(4):293-8. doi: 10.1038/sj.ejhg.5200450.