Alphoid variant-specific FISH probes can distinguish autosomal meiosis I from meiosis II non-disjunction in human sperm |
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Authors: | C L O’Keefe D K Griffin Christopher J Bean A Gregory Matera T J Hassold |
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Institution: | (1) Department of Genetics, Case Western Reserve University and Center for Human Genetics, University Hospitals of Cleveland, 10900 Euclid Avenue, Cleveland, Ohio, 44106-4955, USA, US |
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Abstract: | Over the past few years, several groups have used fluorescence in situ hybridization (FISH) to study aneuploidy in human
sperm. Several important observations have derived from these studies, including the demonstration of chromosome-specific
variation in non-disjunction frequencies, and the possible association of aneuploidy with environmental agents and with increasing
paternal age. However, an important technical limitation of these studies has been the inability to distinguish between autosomal
non-disjunction occurring at meiosis I and meiosis II. In the present report, we describe a simple FISH-based approach designed
to overcome this limitation. Using oligonucleotide probes capable of distinguishing subtle differences in the alpha satellite
sequences of chromosome 17, we demonstrate that (in appropriate heterozygotes) it is possible to simultaneously identify disomic
sperm and to determine the meiotic stage of origin of the additional chromosome. This novel approach has important implications
for future FISH sperm studies, since the ability to distinguish between meiosis I and meiosis II non-disjunction will make
it possible to determine whether putative etiological agents affect chromosome segregation at both, or only one, of the two
meiotic stages.
Received: 19 March 1997 / Accepted: 12 June 1997 |
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