Patient-specific probes for preimplantation genetic diagnosis of structural and numerical aberrations in interphase cells.
OBJECTIVE
Our purpose was to evaluate the utility of translocation breakpoint-spanning DNA probes for prenatal genetic diagnosis of structural and numerical chromosome aberrations in interphase cells.


METHODS
Breakpoint-spanning translocation probes were isolated from large insert DNA libraries and labeled so that the breakpoint regions were stained in different colors. Hybridization conditions were optimized using blastomeres biopsied from donated embryos. Probes were then applied to analyze patient blastomeres.


RESULTS
We prepared translocation breakpoint-specific probes for 18 in vitro fertilization patients. Here, we describe the preparation of probes for two patients carrying balanced translocations involving chromosome 11 [t(11;22)(q23;q11), t(6;11)(p22.1;p15.3)]. The breakpoint cloning procedure could be accomplished in about 3-5 weeks. Additional time was needed to optimize probes. Application of probes demonstrated numerical as well as structural abnormalities.


CONCLUSIONS
Breakpoint-spanning probes allow chromosome analysis in interphase cells as required for preimplantation genetic diagnosis screening of blastomeres.
Weier
H U
HU
Life Sciences Division, University of California, E. O. Lawrence Berkeley National Laboratory 94720, USA.
Munné
S
S
Fung
J
J
D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D015342:DNA Probes; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D017403:In Situ Hybridization / Q000379:methods; D007246:Infertility; D007399:Interphase; D008297:Male; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D014178:Translocation, Genetic
D015342:DNA Probes