Summary
The chromosomal constitution of 2468 human sperm cells been investigated by fusion of human sperm with hamster eggs. The overall frequency of cells with structural aberrations was 7.7%, ranging from 1.9% to 15.8%, and varying significantly among individuals. The highest frequency occurred in sperm from the oldest donor (49 years), who also had had a vasectomy reversal three years prior to sampling. The overall aneuploidy frequency was 1.7%, ranging from 0.6% to 3.1%. In nine out of ten donors from whom blood samples were available the frequency of sperm cells with structural aberrations was higher than that for lymphocytes. Two previously reported donors (Brandriff et al. 1984) were resampled after an interval of 14 and 16 months respectively, and were each found to have similar frequencies of sperm chromosome abnormalities at both sampling times. A father-son pair included in the study had several chromosome breakpoints in common, although no more frequently than unrelated individuals.
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Balkan W, Martin RH (1983a) Chromosome segregation into the spermatozoa of two men heterozygous for different reciprocal translocations. Hum Genet 63:345–348
Balkan W, Martin RH (1983b) Segregation of chromosomes into the spermatozoa of a man heterozygous for a 14;21 Robertsonian translocation. Am J Med Genet 16:169–172
Biggers JD (1969) Problems concerning the uterine causes of embryonic death, with special reference to the effects of ageing of the uterus. J Reprod Fertil, Suppl 8:27–43
Bolanos JR, Overstreet JW, Katz DF (1983) Human sperm penetration of zona-free hamster eggs after storage of the semen for 48 h at 2°C to 5°C. Fertil Steril 39:536–541
Boué J, Boué A (1981) Genetic causes of fetal wastage. In: Cortes-Prieto J, Campos da Paz A, Neves-e-Castro M (eds) Research on fertility and sterility. University Park Press, Baltimore, pp 393–405
Brambell FWR (1948) Prenatal moratlity in mammals. Biol Rev 23:370–407
Brandriff B, Gordon L, Ashworth L, Watchmaker G, Carrano A, Wyrobek A (1984) Chromosomal abnormalities in human sperm: Comparisons among four healthy men. Hum Genet 66:193–201
Brandriff B, Gordon L, Watchmaker G (to be published) Human sperm chromosomes obtained from hamster eggs after sperm capacitation in TEST-yolk buffer. Gam Res
Carr DH, Gedeon M (1977) Population cytogenetics of human abortuses. In: Hook EB, Porter IH (eds) Population cytogenetics. Studies in humans. Academic Press, New York, pp 1–9
Edmonds DK, Lindsay KS, Miller JF, Williamson E, Wood PJ (1982) Early embryonic mortality in women. Fertil Steril 38:447–453
Ford (1973) Human chromosomes. Academic Press, New York, pp 252–256
Hassold T, Chen N, Funkhouser J, Jooss T, Manuel B, Matsuura J, Matsuyama A, Wilson C, Yamane JA, Jacobs PA (1980) A cytogenetic study of 1000 spontaneous abortions. Ann Hum Genet 44:151–178
Hassold T, Chiu D, Yamane JA (1984) Parental origin of autosomal trisomies. Ann Hum Genet 48:129–144
Hendrickx AG, Binkerd PE (1980) Fetal deaths in nonhuman primates. In: Porter IH, Hook EB (eds) Human embryonic and fetal death. Academic Press, New York, pp 45–69
Hook EB (1983) Down syndrome rates and relaxed selection at older maternal ages. Am J Hum Genet 35:1307–1313
Hsu TC (1983) Genetic instability in the human population. A working hypothesis. Hereditas 98:1–9
Kessel E, Pfeiffer RA, Blanke W, Schwarz J (1978) Terminal deletion of the long arm of chromosome 1 in a malformed newborn. Hum Genet 42:333–337
Martin RH (1984) Analysis of human sperm chromosome complements from a male heterozygous for a reciprocal translocation t(11;22)(q23;q11). Clin Genet 25:357–361
Martin RH, Lin CC, Balkan W, Burns K (1982) Direct chromosomal analysis of human spermatozoa: Preliminary results from 18 normal men. Am J Hum Genet 34:459–468
Martin RH, Balkan W, Burns K, Rademaker AW, Lin CC, Rudd NL (1983a) The chromosome constitution of 1000 human spermatozoa. Hum Genet 63:305–309
Martin RH, Balkan W, Burns K (1983b) Cytogenetic analysis of Q-banded pronuclear chromosomes in fertilized Syrian hamster eggs. Cytogenet Cell Genet 35:41–45
Mulcahy MT, Pemberton PJ, Thompson E, Watson M (1982) Is there a monosomy 10qter syndrome? Clin Genet 21:33–35
Perry JS (1945) The reproduction of the wild brown rat (Rattus norvegicus Erxleben). Proc Zool Soc, Lond 115:19–46
Reidy JA, Zhou X, Chen ATL (1983) Folic acid and chromosome breakage. I. Implications for genotoxicity studies. Mutat Res 122:217–221
Roberts CJ, Lowe CR (1975) Where have all the conceptions gone? Lancet 1:498–499
Rudak E, Jacobs PA, Yanigamachi R (1978) Direct analysis of the chromosome constitution of human spermatozoa. Nature 274:911–913
Schlesselman JJ (1979) How does one assess the risk of abnormalities from human in vitro fertilization? Am J Obstet Gynecol 135:135–148
Snedecor GW, Cochran WG (1967) Statistical methods. Iowa State University Press, Ames, pp 240–242
Sutherland GR (1979) Heritable fragile sites on human chromosomes. I. Factors affecting expression in lymphocyte culture. Am J Hum Genet 31:125–135
Turleau C, de Grouchy J, Ponsot G, Bouygues D (1979) Monosomy 10qter. Hum Genet 47:233–237
Wasser SK, Barash DP (1983) Reproductive suppression among female mammals: Implications for biomedicine and sexual selection theory. Q Rev Biol 58:513–538
Wilson JG (1980) Environmental effects on intrauterine death in animals. In: Porter IH, Hook EB (eds) Human embryonic and fetal death. Academic Press, New York, pp 19–27
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Brandriff, B., Gordon, L., Ashworth, L. et al. Chromosomes of human sperm: Variability among normal individuals. Hum Genet 70, 18–24 (1985). https://doi.org/10.1007/BF00389451
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DOI: https://doi.org/10.1007/BF00389451