Aneuploidy detection in human sperm nuclei using PRINS technique

Abstract

Rapid and specific identification of chromosomes can be attained in situ using the PRimed IN Situ (PRINS) labelling technique. We have adapted this technique to mature human sperm in combination with a protocol for simultaneous decondensation and denaturation of sperm nuclei. This strategy allowed us to obtain double labelling of human spermatozoa in a <2‐hr reaction. In the present study, we report the estimates of disomy for chromosomes 3, 7, 10, 11, and 17 on 64,642 spermatozoa from 2 normal males. The incidences of disomy ranged from 0.28–0.34%. There were no significant interindividual or interchromosomal differences in disomy rates. © 1996 Wiley‐Liss, Inc.

Assessment of autosome and gonosome disomy in human sperm nuclei by chromosome painting

“…Pellestor's group (Pellestor 1991;Pellestor et al 1991Pellestor et al , 1996a have applied the primed in situ labelling (PRINS) technique to detect disomy and dipoidy of several chromosomes (chromosomes 2, 3, 5, 8, 9, 10, 11, 12, 13, 16, 17, 18 and 21). This procedure has a high rate of efficiency Girardet et al 1996) but cannot be applied to all of the chromosomes, because of the non-availibility of specific primers. FISH with whole-chromosome paint probes allows the direct visualization of metaphasic and interphasic chromosome in somatic cells and facilitates the study of aneuploidy and structural rearrangements (Carter 1994).…”

Anomalies chromosomiques du spermatozoïde

“…Les limites de cette approche sont la non-disponibilité de primer pour tous les chromosomes et la nécessité d'un matériel spécifique. Peu de sujets et quelques chromosomes ont été analysés jusqu'à ce jour [16][17][18].…”

Trisomy 26 mosaicism in a sterile Holstein‐Friesian heifer

“…A high level of aneuploidy could, however, be responsible for the serious fertility problems encountered in certain animals such as AI bulls. Analyses of male gametes using fluorescent in situ hybridisation techniques, such as those carried out in man by Bischoff and others (1994), Giradet and others (1996) or Rives and others (1998), could be instigated in animal species such as bovines, to determine the overall level of aneuploidy in these species.…”