Pan Cheng-Shuang, Qiu Xiu-Fang, Huang Xi-Xi, Weng Zhi-Liang, Huang Xue-Feng
Center of Reproductive Medicine, The First Hospital Affiliated to Wenzhou Medical College, Wenzhou, Zhejiang 325000, China.
Zhonghua Nan Ke Xue. 2012 Apr;18(4):344-8.
To analyze the meiotic segregation results of the spermatozoa from male pericentric inversion carriers by fluorescence in-situ hybridization (FISH).
Using chemical depolymerization and multicolor FISH, we analyzed the meiotic segregation results of the spermatozoa from 4 male pericentric inversion carriers.
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.
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.
通过荧光原位杂交（FISH）分析男性臂间倒位携带者精子的减数分裂分离结果。
采用化学解聚和多色FISH技术，分析4例男性臂间倒位携带者精子的减数分裂分离结果。
在研究的4例男性中，2例为46,XY,inv(9)(p11q12)，1例为46,XY,inv(9)(p11q13)，另1例为46,XY,inv(6)(p22q24)；倒位片段长度分别占所涉及整条染色体大小的16.0%、16.0%、21.0%和76.0%；重组精子频率分别为0.2%、0.4%、0.3%和43.9%，del(p)/dup(q)占22.4%，del(q)/dup(p)占21.5%。
臂间倒位男性可能产生具有重组染色体的精子，重组率主要根据与所涉及整条染色体的大小比例而变化。染色体不平衡精子的FISH分析结果可为生育遗传风险提供准确的个性化信息。
