Detection of structural abnormalities in spermatozoa of a translocation carrier t(3;11)(q27.3;q24.3) by triple FISH |
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Authors: | E Martini A R M von Bergh E Coonen C E M de Die-Smulders A H N Hopman F C S Ramaekers J P M Geraedts |
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Institution: | (1) Department of Molecular Cell Biology and Genetics, University of Maastricht, P.O. Box 616, NL-6200 MD Maastricht, The Netherlands Fax: +31-43-3670948; e-mail: Elena.Martini@molcelb.unimaas.nl, NL;(2) Obstetrics and Gynaecology, University of Genoa, Italy, IT;(3) Obstetrics and Gynaecology, University Hospital Maastricht, The Netherlands, NL |
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Abstract: | Structural chromosome abnormalities in spermatozoa represent an important category of paternally transmittable genetic damage.
A couple was referred to our centre because of repetitive abortions and the man was found to be a carrier of a reciprocal
translocation t(3;11)(q27.3;q24.3). A tailored fluorescence in situ hybridisation (FISH) approach was developed to study the
meiotic segregation patterns in spermatozoa from this translocation carrier. A combination of three DNA probes was used, a
centromeric probe for chromosome 11, a cosmid probe for chromosome 11q and a YAC probe for chromosome 3q. The frequency of
spermatozoa carrying an abnormal chromosome constitution was compared with baseline frequencies in control semen specimens
and it was found that a significantly higher percentage of spermatozoa carried an abnormal constitution for the chromosomes
involved in the translocation. A normal or balanced chromosome constitution was found in 44.3% of the analysed spermatozoa,
while the remainder exhibited an abnormal chromosome constitution reflecting different modes of segregation (15.9% adjacent
I segregation, 6.5% adjacent II segregation, 28.9% 3 : 1 segregation, 0.8% 4 : 0 segregation, 3.6% aberrant segregation).
The frequency of aneuploidy for chromosomes X, Y, 13 and 21 was assessed using specific probes but there was no evidence of
interchromosomal effects or variations in the sex ratio in spermatozoa from the translocation carrier. In conclusion, structural
aberrations can be reliably assessed in interphase spermatozoa using unique DNA probe cocktails, and this method provides
insight into the genetic constitution of germ cells and enables evaluation of potential risks for the offspring.
Received: 19 September 1997 / Accepted: 27 October 1997 |
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