PMID- 14641995
OWN - NLM
STAT- MEDLINE
DCOM- 20040630
LR  - 20171116
IS  - 1090-6576 (Print)
IS  - 1090-6576 (Linking)
VI  - 7
IP  - 3
DP  - 2003 Fall
TI  - Screening for DMD/BMD deletion carriers by fluorescence in situ hybridization.
PG  - 195-201
AB  - Fluorescence in situ hybridization (FISH) serves as an excellent alternative for 
      direct detection of heterozygous deletions. Using a set of exon-specific cosmid 
      DNA probes representing 18 exons, one-color FISH on metaphase and interphase 
      preparations was performed to identify Duchenne/Becker muscular dystrophy 
      (DMD/BMD) deletion carriers. The peripheral blood samples from 9 normal male or 
      female controls and 5 females of independent DMD/BMD families, as well as 2 
      amniotic fluid specimens and 2 chorionic villus samples (CVS) from normal 
      pregnant females, were analyzed. Expected signals were displayed in 72-100% of 
      peripheral blood lymphocyte metaphases or interphases, 60-70% of amniocyte 
      interphases, and 95-99% of chorionic villus cell interphases. One suspected 
      female was identified as a deletion carrier and two were excluded. The results 
      indicated that metaphase and interphase FISH were both useful for detection of 
      heterozygous deletions. FISH, in combination with other available techniques, 
      allowed efficient screening of DMD/BMD deletion carriers. The study also offered 
      preliminary results in support of an approach to prenatal diagnosis of potential 
      fetal carriers.
FAU - Xiao, Yanping
AU  - Xiao Y
AD  - Shanghai Institute of Planned Parenthood Research, 2140 Xie Tu Road, Shanghai 
      200032, People's Republic of China.
FAU - Jiang, Xiurong
AU  - Jiang X
FAU - Wang, Renli
AU  - Wang R
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Genet Test
JT  - Genetic testing
JID - 9802546
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - Case-Control Studies
MH  - Chorionic Villi Sampling
MH  - Female
MH  - Fetal Diseases/diagnosis/genetics
MH  - Genetic Carrier Screening/*methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Interphase/genetics
MH  - Lymphocytes/physiology
MH  - Male
MH  - Metaphase/genetics
MH  - Middle Aged
MH  - Muscular Dystrophy, Duchenne/diagnosis/*genetics
MH  - Polymerase Chain Reaction/methods
MH  - Pregnancy
MH  - Prenatal Diagnosis/methods
MH  - Sex Determination Analysis
EDAT- 2003/12/04 05:00
MHDA- 2004/07/01 05:00
CRDT- 2003/12/04 05:00
PHST- 2003/12/04 05:00 [pubmed]
PHST- 2004/07/01 05:00 [medline]
PHST- 2003/12/04 05:00 [entrez]
AID - 10.1089/109065703322537205 [doi]
PST - ppublish
SO  - Genet Test. 2003 Fall;7(3):195-201. doi: 10.1089/109065703322537205.