PMID- 8882884 OWN - NLM STAT- MEDLINE DCOM- 19961203 LR - 20190722 IS - 0340-6717 (Print) IS - 0340-6717 (Linking) VI - 98 IP - 5 DP - 1996 Nov TI - Simultaneous detection of structural and numerical chromosome abnormalities in sperm of healthy men by multicolor fluorescence in situ hybridization. PG - 608-15 AB - Both structural and numerical chromosome aberrations in sperm represent important categories of paternally transmitted genetic damage. Therefore, a new multiprobe fluorescence in situ hybridization (FISH) method, using DNA probes for three targets (centromere and telomere of chromosome 1, centromere of chromosome 8), was developed to detect human sperm carrying three types of chromosomal defects: (1) terminal duplications or deletions in chromosome 1p, (2) aneuploidy involving chromosomes 1 or 8, and (3) diploidy. Baseline frequencies were determined for three healthy donors who had been previously evaluated for sperm cytogenetics by the human-sperm/hamster-oocyte cytogenetic technique (hamster technique). Among approximately 120,000 sperm analyzed by the new FISH method, the average baseline frequencies of sperm carrying telomeric duplications and deletions of 1p were 3.2 +/- 1.9 and 2.9 +/- 3.6 per 10(4), respectively. Diploid sperm was found in an average frequency of 6.6 +/- 4.0 per 10(4). Average frequencies of disomic sperm for chromosomes 1 or 8 were 1.7 +/- 2.2 and 1.9 +/- 2.3 per 10(4), respectively. Inter-individual differences were observed for deletions of 1p but not for the other sperm phenotypes. A good correlation was obtained between the frequencies of sperm with structural chromosome aberrations detected with the new assay and the frequency of sperm carrying premeiotic or meiotic cytogenetic damage detected with the hamster technique. The observed levels of numerical aberrations with the new FISH assay were within range of the baseline frequencies reported by the hamster technique. The newly developed FISH assay has promising applications in genetic, clinical, physiological and toxicological studies. FAU - Van Hummelen, P AU - Van Hummelen P AD - Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, CA 94550, USA. vanhummelen1@llnl.gov FAU - Lowe, X R AU - Lowe XR FAU - Wyrobek, A J AU - Wyrobek AJ LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Germany TA - Hum Genet JT - Human genetics JID - 7613873 SB - IM MH - Adult MH - Animals MH - *Chromosome Aberrations MH - Chromosomes, Human, Pair 1 MH - Chromosomes, Human, Pair 8 MH - Cricetinae MH - Humans MH - In Situ Hybridization, Fluorescence/*methods MH - Male MH - Middle Aged MH - Phenotype MH - *Spermatozoa EDAT- 1996/11/01 00:00 MHDA- 1996/11/01 00:01 CRDT- 1996/11/01 00:00 PHST- 1996/11/01 00:00 [pubmed] PHST- 1996/11/01 00:01 [medline] PHST- 1996/11/01 00:00 [entrez] AID - 10.1007/s004390050268 [doi] PST - ppublish SO - Hum Genet. 1996 Nov;98(5):608-15. doi: 10.1007/s004390050268.