Abstract
Fluorescent in situ hybridization (FISH) utilizing an X chromosome whole library probe was used directly to assess the rate of aneuploidy and pairing behavior of the X chromosome in human female meiosis. Over 3000 meiotic cells obtained from fetal ovaries (gestational age 13–22 weeks) were scored for meiotic stage and evaluated for pairing abnormalities. No pairing anomalies were observed in 832 pachytenes. Twenty-two percent (88/398) of cells in zygotene were partially paired, but nonhomologous pairings could not be identified. One aneuploid preleptotene oocyte, presumably from mitotic nondisjunction was detected. To our knowledge, this is the first report of the use of FISH utilizing whole chromosome probes to evaluate the pairing behavior of chromosomes in human female meiosis. The application of this technique to study the relationship between nondisjunction and chromosome pairing behavior in maternal-age-related aneuploidy is discussed.
Similar content being viewed by others
References
Antonarakis SE, The Down Syndrome Collaborative Group (1991) Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA ploymorphisms. N Engl. J Med 324:872–876
Baker TG (1963) A quantitative and cytological study of germ cells in human ovaries. Proc F Soc Lond [Biol] 158:417–433
Blandau RJ, White BJ, Rumery RE (1963) Observation on the movements of living primordial germ cells in the mouse. Fertil Steril 14:482–489
Bojko M (1983) Human meiosis III. Chromosome pairing and formation of the synaptonemal complex in oocytes. Carlesberg Res Commun 49:457–483
Chandley AC (1989) Asymmetry in chromosome pairing: a mejor factor in de novo mutation and the production of genetic disease in man. J Med Genet 26:546–552
Fisher JM, Harvey JF, Lindenbaum RH, Boyd PA, Jacobs PA (1993) Molecular studies of trisomy 18. Am J Hum Genet 52:1139–1144
Garcia M, Dietrich O, Freixa L, Vink ACG, Ponsa M, Egozcue J (1987) Development of the first meiotic pro-phase stages in human fetal oocytes observed by light microscopy. Hum Genet 77:223–232
Goldman ASH, Hulten MA (1992) Chromosome in situ suppression hybridization in human male meiosis. J Med Genet 29:98–102
Hassold TJ, Jacobs PA (1984) Trisomy in man. Annu Rev Genet 18:69–87
Hassold TJ, Pettay D, Freeman SB, Grantham M, Takaesu N (1991) Molecular studies of non-disjunction in trisomy 16. J Med Genet 28:159–162
Henderson SA, Edwards RG (1968) Chiasma frequency and maternal age in mammals. Nature 218:22–28
Kamiguchi Y, Rosenbusch B, Sterzik K, Mikamo K (1993) Chromosomal analysis of unfertilized human oocytes prepared by a gradual fixation-air drying method. Hum Genet 90:533–541
Monotaya T, Potter EL (1963) Oocytes in prophase of meiosis from squash preparations of human fetal ovaries. Feril Steril 14:378–392
ONCOR (1991) Chromosome in situ system. Edition 3, December, 1991, Gaithersburg, Maryland
Pellestor F (1991) Frequency and distribution of aneuploidy in human female gametes. Hum Genet 86:283–288
Pinkel D, Landegent J, Collins C, Fuscoe J, Segraves R, Lucas J, Gray J (1988) Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocation of chromosome 4. Proc Natl Acad Sci USA 85:9138–9142
Sherman SL, Takaesu N, Freeman SB, Grantham M, Phillips C, Blackston RD, Jacobs PA, Cockwell AE, Freeman V, Uchida I, Mikkelsen M, Kurnit DM, Buraczynska M, Keats BJB, Hassold TJ (1991) Trisomy 21: association between reduced recombination and nondisjunction. Am J Hum Genet 49:608–620
Speed RM (1983) Meiotic configurations in female trisomy 21 foetuses. Hum Genet 66:176–180
Speed RM (1985) The prophase stages in human foetal oocytes studied by light and electron microscopy. Hum Genet 69:69–75
Speed RM (1988) The possible role of meiotic pairing anomalies in the atresia of human fetal oocytes. Hum Genet 78:260–266
Stewart GD, Hassold TJ, Berg A, Watkins P, Tanzi R, Kurnit DM (1988) Trisomy 21 (Down syndrome): studying nondisjunction and meiotic recombination by using cytogenetic and molecular polymorphisms that span chromosome 21. Am J Hum Genet 42:227–236
Wallace BMN, Hulten MA (1985) Meiotic chromosome pairing in the normal human female. Ann Hum Genet 49:215–226
Warren AC, Chakravarti A, Wong C, Slaugenhaupt SA (1987) Evidence for reduced recombination on the nondisjoined chromosome 21 in Down syndrome. Science 237:652–654
Wharburton D (1989) The effect of maternal age on the frequency f trisomy: changes in meiosis or in utero selection? In: Hassold TJ, Epstein C (eds) Molecular and cytogenetic studies of nondisjunction. Liss, New York, pp 165–181
Zheng CK, Byers B (1992) Oocyte selection: a new model for the maternal age dependence of Down syndrome. Hum Genet 90:1–6
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Cheng, E.Y., Garder, S.M. A fluorescent in situ hybridization analysis of X chromosome pairing in early human female meiosis. Hum Genet 94, 389–394 (1994). https://doi.org/10.1007/BF00201599
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00201599