Chromosomal breakage in human spermatozoa, a heterozygous effect of the Bloom syndrome mutation.
The chromosome complements of 662 spermatozoa produced by the three fathers of individuals with Bloom syndrome (BS) were analyzed to determine whether the BS mutation could affect chromosome segregation and the frequency of aneuploidy in sperm. The frequency of numerical abnormalities was not significantly different from that in normal controls studied in our laboratory, but the frequencies of structural abnormalities were significantly increased in two of the men, 14.3% and 15.9%, versus 8.6% in controls. More striking was the increase in these two men of cells with multiple structural abnormalities: 8.1% and 6.7% with multiple abnormalities, versus 2.3% in controls.
Department of Pediatrics, University of Calgary, Alberta, Canada.
R H
RH
Martin
A
A
Rademaker
J
J
German
D000015:Abnormalities, Multiple; D000328:Adult; D001816:Bloom Syndrome / Q000235:genetics*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D006579:Heterozygote; D006801:Humans; D007621:Karyotyping; D008297:Male; D008540:Meiosis / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D013094:Spermatozoa / Q000473:pathology*