PMID- 9385371 OWN - NLM STAT- MEDLINE DCOM- 19971224 LR - 20190722 IS - 0340-6717 (Print) IS - 0340-6717 (Linking) VI - 101 IP - 1 DP - 1997 Nov TI - Alphoid variant-specific FISH probes can distinguish autosomal meiosis I from meiosis II non-disjunction in human sperm. PG - 61-6 AB - 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. FAU - O'Keefe, C L AU - O'Keefe CL AD - Department of Genetics, Case Western Reserve University, Cleveland, Ohio, USA. FAU - Griffin, D K AU - Griffin DK FAU - Bean, C J AU - Bean CJ FAU - Matera, A G AU - Matera AG FAU - Hassold, T J AU - Hassold TJ LA - eng GR - HD21341/HD/NICHD NIH HHS/United States GR - HD32111/HD/NICHD NIH HHS/United States PT - Comparative Study PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, P.H.S. PL - Germany TA - Hum Genet JT - Human genetics JID - 7613873 RN - 0 (DNA, Satellite) RN - 0 (Oligonucleotide Probes) SB - IM MH - Base Sequence MH - Chromosomes, Human, Pair 17/genetics MH - DNA, Satellite/genetics MH - Heterozygote MH - Humans MH - In Situ Hybridization, Fluorescence/*methods MH - Male MH - Meiosis/*genetics MH - *Nondisjunction, Genetic MH - Oligonucleotide Probes MH - Spermatozoa/*ultrastructure EDAT- 1998/01/07 00:00 MHDA- 1998/01/07 00:01 CRDT- 1998/01/07 00:00 PHST- 1998/01/07 00:00 [pubmed] PHST- 1998/01/07 00:01 [medline] PHST- 1998/01/07 00:00 [entrez] AID - 10.1007/s004390050587 [doi] PST - ppublish SO - Hum Genet. 1997 Nov;101(1):61-6. doi: 10.1007/s004390050587.