Detection of structural abnormalities in spermatozoa of a translocation carrier t(3;11)(q27.3;q24.3) by triple FISH
作者： E. Martini , A. R. M. von Bergh , E. Coonen , C. E. M. de Die-Smulders , A. H. N. Hopman
关键词: Biology 、 Meiosis 、 Semen 、 Chromosomal translocation 、 Cosmid 、 Molecular biology 、 Chromosome 、 Cytogenetics 、 Aneuploidy 、 Hybridization probe
摘要: Structural chromosome abnormalities in spermatozoa represent an important category of paternally transmittable genetic damage. A couple was referred to our centre because repetitive abortions and the man found be a carrier reciprocal translocation t(3;11)(q27.3;q24.3). tailored fluorescence situ hybridisation (FISH) approach developed study meiotic segregation patterns from this carrier. combination three DNA probes used, centromeric probe for 11, cosmid 11q YAC 3q. The frequency carrying abnormal constitution compared with baseline frequencies control semen specimens it that significantly higher percentage carried chromosomes involved translocation. normal or balanced 44.3% analysed spermatozoa, while remainder exhibited reflecting different modes (15.9% adjacent I segregation, 6.5% II 28.9% 3 : 1 0.8% 4 0 3.6% aberrant segregation). aneuploidy X, Y, 13 21 assessed using specific but there no evidence interchromosomal effects variations sex ratio In conclusion, structural aberrations can reliably interphase unique cocktails, method provides insight into germ cells enables evaluation potential risks offspring.
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