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Van Hummelen P, Manchester D, Lowe X, et al. Meiotic segregation, recombination, and gamete aneuploidy assessed in a t(1;10)(p22.1;q22.3) reciprocal translocation carrier by three- and four-probe multicolor FISH in sperm. Am J Hum Genet. 1997;61(3):651-9doi: 10.1086/515516.
Van Hummelen, P., Manchester, D., Lowe, X., & Wyrobek, A. J. (1997). Meiotic segregation, recombination, and gamete aneuploidy assessed in a t(1;10)(p22.1;q22.3) reciprocal translocation carrier by three- and four-probe multicolor FISH in sperm. American journal of human genetics, 61(3), 651-9. https://doi.org/10.1086/515516
Van Hummelen, P, et al. "Meiotic segregation, recombination, and gamete aneuploidy assessed in a t(1;10)(p22.1;q22.3) reciprocal translocation carrier by three- and four-probe multicolor FISH in sperm." American journal of human genetics vol. 61,3 (1997): 651-9. doi: https://doi.org/10.1086/515516
Van Hummelen P, Manchester D, Lowe X, Wyrobek AJ. Meiotic segregation, recombination, and gamete aneuploidy assessed in a t(1;10)(p22.1;q22.3) reciprocal translocation carrier by three- and four-probe multicolor FISH in sperm. Am J Hum Genet. 1997 Sep;61(3):651-9. doi: 10.1086/515516. PMID: 9326331; PMCID: PMC1715953.
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Elsevier Science Free PMC Article

Am J Hum Genet. 1997 Sep;61(3):651-9. doi: 10.1086/515516.

Meiotic segregation, recombination, and gamete aneuploidy assessed in a t(1;10)(p22.1;q22.3) reciprocal translocation carrier by three- and four-probe multicolor FISH in sperm.

American journal of human genetics

P Van Hummelen, D Manchester, X Lowe, A J Wyrobek

Affiliations

  1. Lawrence Livermore National Laboratory, Livermore, California 94550, USA. [email protected]

PMID: 9326331 PMCID: PMC1715953 DOI: 10.1086/515516
Free PMC Article

Abstract

Meiotic segregation, recombination, and aneuploidy was assessed for sperm from a t(1;10)(p22.1;q22.3) reciprocal translocation carrier, by use of two multicolor FISH methods. The first method utilized three DNA probes (a telomeric and a centromeric probe on chromosome 1 plus a centromeric probe on chromosome 10) to analyze segregation patterns, in sperm, of the chromosomes involved in the translocation. The aggregate frequency of sperm products from alternate and adjacent I segregation was 90.5%, and the total frequency of normal and chromosomally balanced sperm was 48.1%. The frequencies of sperm products from adjacent II segregation and from 3:1 segregation were 4.9% and 3.9%, respectively. Reciprocal sperm products from adjacent I segregation deviated significantly from the expected 1:1 ratio (P < .0001). Our assay allowed us to evaluate recombination events in the interstitial segments at adjacent II segregation. The frequencies of sperm products resulting from interstitial recombination in chromosome 10 were significantly higher than those resulting from interstitial recombination in chromosome 1 (P < .006). No evidence of an interchromosomal effect on aneuploidy was found by use of a second FISH method that simultaneously utilized four chromosome-specific DNA probes to quantify the frequencies of aneuploid sperm for chromosomes X, Y, 18, and 21. However, a significant higher frequency of diploid sperm was detected in the translocation carrier than was detected in chromosomally normal and healthy controls. This study illustrates the advantages of multicolor FISH for assessment of the reproductive risk associated with translocation carriers and for investigation of the mechanisms of meiotic segregation of chromosomes.

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References

  1. Philos Trans R Soc Lond B Biol Sci. 1977 Mar 21;277(955):267-76 - PubMed
  2. Clin Genet. 1995 Jan;47(1):42-6 - PubMed
  3. Hum Genet. 1978 Dec 29;45(3):259-82 - PubMed
  4. Am J Hum Genet. 1986 Feb;38(2):197-208 - PubMed
  5. Am J Hum Genet. 1986 Jun;38(6):954-64 - PubMed
  6. Cytogenet Cell Genet. 1988;47(1-2):29-36 - PubMed
  7. Hum Genet. 1988 May;79(1):24-8 - PubMed
  8. Mol Reprod Dev. 1990 Nov;27(3):200-8 - PubMed
  9. Cytogenet Cell Genet. 1995;71(3):240-6 - PubMed
  10. Science. 1995 Dec 8;270(5242):1595-601 - PubMed
  11. Reprod Fertil Dev. 1995;7(4):799-809 - PubMed
  12. Proc Natl Acad Sci U S A. 1996 Aug 6;93(16):8167-74 - PubMed
  13. Hum Genet. 1996 Nov;98(5):608-15 - PubMed
  14. Hereditas. 1974;76(1):55-78 - PubMed
  15. J Cell Sci. 1975 Dec;19(3):487-507 - PubMed
  16. Cell Tissue Res. 1976 May 26;168(4):419-31 - PubMed
  17. Cytogenet Cell Genet. 1991;57(4):200-3 - PubMed
  18. J Med Genet. 1992 Feb;29(2):98-102 - PubMed
  19. Hum Genet. 1992 Jun;89(4):425-9 - PubMed
  20. Hum Genet. 1992 Sep-Oct;90(1-2):79-85 - PubMed
  21. Am J Hum Genet. 1993 Apr;52(4):799-807 - PubMed
  22. Cell. 1994 Jul 1;77(7):957-62 - PubMed
  23. Mol Reprod Dev. 1994 Jul;38(3):247-50 - PubMed
  24. Cytogenet Cell Genet. 1995;70(1-2):80-7 - PubMed
  25. Fed Proc. 1978 Sep;37(11):2512-6 - PubMed

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