FISH analysis of meiotic segregation results of the spermatozoa from male pericentric inversion carriers / 中华男科学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the meiotic segregation results of the spermatozoa from male pericentric inversion carriers by fluorescence in-situ hybridization (FISH).</p><p><b>METHODS</b>Using chemical depolymerization and multicolor FISH, we analyzed the meiotic segregation results of the spermatozoa from 4 male pericentric inversion carriers.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>