PMID- 11142758
OWN - NLM
STAT- MEDLINE
DCOM- 20010201
LR  - 20071114
IS  - 1090-6576 (Print)
IS  - 1090-6576 (Linking)
VI  - 4
IP  - 3
DP  - 2000
TI  - Case-specific, breakpoint-spanning DNA probes for analysis of single interphase 
      cells.
PG  - 273-8
AB  - Balanced reciprocal translocations are known to interfere with homolog pairing in 
      meiosis. Many individuals carrying such chromosomal abnormalities suffer from 
      reduced fertility or spontaneous abortions and seek help in the form of assisted 
      reproductive technology. Although most translocations are relatively easy to 
      detect in metaphase cells, the majority of embryonic cells biopsied in the course 
      of in vitro fertilization (IVF) procedures are in interphase. These nuclei are, 
      thus, unsuitable for analysis by chromosome banding or painting using 
      fluorescence in situ hybridization (FISH). Our assay, based on FISH detection of 
      breakpoint-spanning DNA probes, identifies translocations in interphase nuclei by 
      microscopic inspection of hybridization domains. Probes are selected that span 
      the breakpoint regions on normal homologs. The probes should hybridize to several 
      hundred kilobases of DNA flanking the breakpoint. The two breakpoint-spanning DNA 
      probes for the translocation chromosomes are labeled in separate colors (e.g., 
      red and green). The translocation event producing two fused red/green 
      hybridization domains can then be detected in interphase cell nuclei using a 
      fluorescence microscope. We applied this scheme to analyze somatic and germ cells 
      from 21 translocation patients, each with distinct breakpoints. Here, we 
      summarize our experience and provide a description of strategies, cost estimates, 
      as well as typical time frames.
FAU - Lersch, R A
AU  - Lersch RA
AD  - Life Sciences Division, University of California, Berkeley 94720, USA.
FAU - Fung, J
AU  - Fung J
FAU - Munne, S
AU  - Munne S
FAU - Pedersen, R A
AU  - Pedersen RA
FAU - Weier, H U
AU  - Weier HU
LA  - eng
GR  - 5-T32-ES07106-17/ES/NIEHS NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genet Test
JT  - Genetic testing
JID - 9802546
RN  - 0 (DNA Probes)
SB  - IM
MH  - Blastomeres
MH  - *DNA Probes
MH  - Female
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Interphase
MH  - Male
MH  - *Translocation, Genetic
EDAT- 2001/01/06 11:00
MHDA- 2001/02/28 10:01
CRDT- 2001/01/06 11:00
PHST- 2001/01/06 11:00 [pubmed]
PHST- 2001/02/28 10:01 [medline]
PHST- 2001/01/06 11:00 [entrez]
AID - 10.1089/10906570050501498 [doi]
PST - ppublish
SO  - Genet Test. 2000;4(3):273-8. doi: 10.1089/10906570050501498.