Advances in understanding paternally transmitted Chromosomal Abnormalities
作者： A J Wyrobek , E Sloter , F Marchetti
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摘要: Multicolor FISH has been adapted for detecting the major types of chromosomal abnormalities in human sperm including aneuploidies clinically-relevant chromosomes, aberrations breaks and rearrangements, other numerical abnormalities. The various assays have used to evaluate healthy men, men advanced age, who received mutagenic cancer therapy. mouse also as a model investigate mechanism paternally transmitted genetic damage. Sperm detect chromosomally abnormal sperm, while PAINT/DAPI analysis zygotes defects that can be embryo their effects on embryonic development.
osti.gov参考文章(58)
A. Genescà, R. Mirò, M. R. Caballìn, J. Benet, J. R. Germà, J. Egozcue, Sperm chromosome studies in individuals treated for testicular cancer. Human Reproduction. ,vol. 5, pp. 286- 290 ,(1990) , 10.1093/OXFORDJOURNALS.HUMREP.A137091
Bernd Rosenbusch, Erwin Strehler, Karl Sterzik, Cytogenetics of human spermatozoa: correlations with sperm morphology and age of fertile men. Fertility and Sterility. ,vol. 58, pp. 1071- 1072 ,(1992) , 10.1016/S0015-0282(16)55464-8
Ernest B. Hook, The impact of aneuploidy upon public health: mortality and morbidity associated with human chromosome abnormalities. Basic life sciences. ,vol. 36, pp. 7- 33 ,(1985) , 10.1007/978-1-4613-2127-9_2
Liane B. Russell, EFFECTS OF SPERMATOGENIC CELL TYPE ON QUANTITY AND QUALITY OF MUTATIONS Springer, Boston, MA. pp. 37- 48 ,(1994) , 10.1007/978-1-4615-1877-8_3
K Mikamo, Y Kamiguchi, An improved, efficient method for analyzing human sperm chromosomes using zona-free hamster ova. American Journal of Human Genetics. ,vol. 38, pp. 724- 740 ,(1986)
C Templado, J Navarro, C Márquez, V Van Kirk, M R Martorell, K Cieply, J Benet, A M Estop, S Munné, An analysis of human sperm chromosome breakpoints. American Journal of Human Genetics. ,vol. 56, pp. 452- 460 ,(1995)
G A Sega, Unscheduled DNA synthesis (DNA repair) in the germ cells of male mice--its role in the study of mammalian mutagenesis. Genetics. ,vol. 92, ,(1979)
Lorraine Potocki, Ken-Shiung Chen, Sung-Sup Park, Doreen E. Osterholm, Marjorie A. Withers, Virginia Kimonis, Anne M. Summers, Wendy S. Meschino, Kwame Anyane-Yeboa, Catherine D. Kashork, Lisa G. Shaffer, James R. Lupski, Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nature Genetics. ,vol. 24, pp. 84- 87 ,(2000) , 10.1038/71743
T HASSOLD, Nondisjunction in the human male. Current Topics in Developmental Biology. ,vol. 37, pp. 383- 406 ,(1997) , 10.1016/S0070-2153(08)60181-7
L Weiss, J R Roberson, D L Van Dyke, V R Babu, The frequency and mutation rate of balanced autosomal rearrangements in man estimated from prenatal genetic studies for advanced maternal age. American Journal of Human Genetics. ,vol. 35, pp. 301- 308 ,(1983)