【摘要】 目的:探讨用精子荧光原位杂交(fluorescence in situ hybridization,FISH)分析男性染色体臂间倒位携带者的减数分裂结果。方法:对4例男性染色体臂间倒位携带者的精子通过化学方法解聚,利用双色FISH,分析精子染色体组成并推断其分离类型。结果:4例染色体臂间倒位携带者中2例为46,XY,inv(9)(p11q12),1例为46,XY,inv(9)(p11q13),1例为46,XY,inv(6)(p22q24),其倒位片段长度分别占整条染色体的16.0%、16.0%、21.0%和76.0%,其重组精子分别为0.2%、0.4%、0.3%和43.9%(del(p)/dup(q)占22.4﹪,del(q)/dup(p)占21.5﹪)。结论:染色体臂间倒位携带者减数分裂的重组发生跟倒位片段占整条染色体长度比例有关。FISH分析可了解重组后染色体不平衡精子的比率,有助于提供更准确的遗传咨询。更多还原

【Abstract】 Objective: To analyze the meiotic segregation results of the spermatozoa from male pericentric inversion carriers by fluorescence in-situ hybridization(FISH).Methods: Using chemical depolymerization and multicolor FISH,we analyzed the meiotic segregation results of the spermatozoa from 4 male pericentric inversion carriers.Results: Of the 4 males studied,46,XY,inv(9)(p11q12) was found in 2,46,XY,inv(9)(p11q13) in 1 and 46,XY,inv(6)(p22q24) in the other;the lengths of the inverted segments represented 16.0,16.0,21.0 and 76.0% of the size of the whole chromosome involved;and the frequencies of recombinant sperm were 0.2,0.4,0.3 and 43.9%,del(p)/dup(q) accounting for 22.4% and del(q)/dup(p) 21.5%,respectively.Conclusion: Males with pericentric inversion may produce spermatozoa with recombinant chromosomes and the rate of recombination varies principally according to the size proportion to the whole chromosome involved.The results of FISH analysis of chromosomal unbalanced spermatozoa can provide accurate personalized information on the genetic risk of fertility.更多还原