PMID- 16608904
OWN - NLM
STAT- MEDLINE
DCOM- 20060818
LR  - 20061115
IS  - 1360-9947 (Print)
IS  - 1360-9947 (Linking)
VI  - 12
IP  - 5
DP  - 2006 May
TI  - PGD for dystrophin gene deletions using fluorescence in situ hybridization.
PG  - 353-6
AB  - Duchenne muscular dystrophy and Becker muscular dystrophy (DMD and BMD) are 
      caused by mutations in the dystrophin gene (Xp21). In two-thirds of DMD/BMD 
      cases, the mutation is a large deletion of one or several exons. We have 
      established PGD for DMD/BMD using interphase fluorescence in situ hybridization 
      (FISH) analysis on single nuclei from blastomeres for the detection of deletions 
      of specific exons in the dystrophin gene. We performed PGD for two carrier 
      females; one had a deletion of exons 45-50 (DMD), and the other had a deletion of 
      exons 45-48 (BMD). An exon 45-specific probe was used in combination with probes 
      for the X and Y centromeres. Using this straightforward approach, we can 
      distinguish affected and unaffected male embryos as well as carrier female and 
      normal female embryos. Three cycles were performed for each patient, which 
      resulted in a pregnancy and the birth of a healthy girl. To the best of our 
      knowledge, this approach for PGD has not been previously reported. The use of 
      interphase FISH is an attractive alternative to sexing or PCR-based mutation 
      detection for PGD patients with known deletions of the dystrophin gene.
FAU - Malmgren, H
AU  - Malmgren H
AD  - Department of Molecular Medicine and Surgery, Clinical Genetics Unit, Karolinska 
      Institutet and Fertility Unit, Karolinska University Hospital, Huddinge, 
      Stockholm, Sweden.
FAU - White, I
AU  - White I
FAU - Johansson, S
AU  - Johansson S
FAU - Levkov, L
AU  - Levkov L
FAU - Iwarsson, E
AU  - Iwarsson E
FAU - Fridstrom, M
AU  - Fridstrom M
FAU - Blennow, Elisabeth
AU  - Blennow E
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20060411
PL  - England
TA  - Mol Hum Reprod
JT  - Molecular human reproduction
JID - 9513710
RN  - 0 (Dystrophin)
SB  - IM
MH  - Adult
MH  - Blastomeres/cytology/metabolism
MH  - Dystrophin/*genetics
MH  - Exons/genetics
MH  - Female
MH  - *Gene Deletion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Male
MH  - Muscle, Skeletal/metabolism/pathology
MH  - Muscular Dystrophies/diagnosis/*genetics
MH  - Muscular Dystrophy, Duchenne/diagnosis/*genetics
MH  - Pregnancy
MH  - Preimplantation Diagnosis/*methods
EDAT- 2006/04/13 09:00
MHDA- 2006/08/19 09:00
CRDT- 2006/04/13 09:00
PHST- 2006/04/13 09:00 [pubmed]
PHST- 2006/08/19 09:00 [medline]
PHST- 2006/04/13 09:00 [entrez]
AID - gal039 [pii]
AID - 10.1093/molehr/gal039 [doi]
PST - ppublish
SO  - Mol Hum Reprod. 2006 May;12(5):353-6. doi: 10.1093/molehr/gal039. Epub 2006 Apr 
      11.