PMID- 7606926
OWN - NLM
STAT- MEDLINE
DCOM- 19950816
LR  - 20180214
IS  - 0301-0171 (Print)
IS  - 0301-0171 (Linking)
VI  - 71
IP  - 1
DP  - 1995
TI  - Aneuploidy in human sperm: results of two-and three-color fluorescence in situ 
      hybridization using centromeric probes for chromosomes 1, 12, 15, 18, X, and Y.
PG  - 47-53
AB  - To understand the mechanisms that affect aneuploidy, fluorescence in situ 
      hybridization (FISH), using chromosome-specific centromeric probes, was employed 
      to screen a large population of human sperm for numerical errors. To determine 
      the true rate of disomy for chromosomes 1, 12, 15, and 18, two-color FISH was 
      performed, and for the gonosomes, three-color FISH. The use of multiple, 
      differently colored probes allows one to distinguish a true disomic sperm from a 
      diploid cell. A minimum of 10,000 sperm nuclei from each of five donors was 
      scored per set of centromeric probes, giving a total of 165,330 sperm nuclei. The 
      disomy frequencies for autosomes 1, 12, 15, and 18 were found to be similar, with 
      a mean of 0.10% (range, 0.05%-0.16%) for chromosome 1, 0.16% (0.10%-0.25%) for 
      chromosome 12, 0.11% (0.07%-0.20%) for chromosome 15, and 0.11% (0.08%-0.17%) for 
      chromosome 18. For the sex chromosomes, the mean frequency of disomy was found to 
      be 0.43% (range, 0.23%-0.71%), with XX disomy accounting for 0.07% (0.03%-0.10%), 
      YY disomy 0.21% (0.10%-0.43%), and XY disomy 0.15% (0.08%-0.24%). The incidence 
      of disomic sperm for the sex chromosomes was significantly increased, compared to 
      the frequency of disomy for the autosomes (chi 2 = 218.61, P < 0.0001). Diploidy 
      was observed in 0.05%-0.47% of the sperm nuclei counted. Interdonor heterogeneity 
      for disomy frequencies was found to exist for the sex chromosomes and for 
      chromosomes 1 and 15, suggesting significant variation among normal men.
FAU - Spriggs, E L
AU  - Spriggs EL
AD  - Department of Medical Genetics, University of Calgary, Alberta, Canada.
FAU - Rademaker, A W
AU  - Rademaker AW
FAU - Martin, R H
AU  - Martin RH
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Switzerland
TA  - Cytogenet Cell Genet
JT  - Cytogenetics and cell genetics
JID - 0367735
RN  - 0 (DNA Probes)
SB  - IM
MH  - Adult
MH  - *Aneuploidy
MH  - Centromere
MH  - *Chromosomes, Human, Pair 1
MH  - *Chromosomes, Human, Pair 15
MH  - *Chromosomes, Human, Pair 18
MH  - DNA Probes
MH  - Diploidy
MH  - Genetic Heterogeneity
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Male
MH  - Middle Aged
MH  - Spermatozoa/*ultrastructure
MH  - *X Chromosome
MH  - *Y Chromosome
EDAT- 1995/01/01 00:00
MHDA- 1995/01/01 00:01
CRDT- 1995/01/01 00:00
PHST- 1995/01/01 00:00 [pubmed]
PHST- 1995/01/01 00:01 [medline]
PHST- 1995/01/01 00:00 [entrez]
AID - 10.1159/000134060 [doi]
PST - ppublish
SO  - Cytogenet Cell Genet. 1995;71(1):47-53. doi: 10.1159/000134060.