USE OF PREIMPLANTATION DIAGNOSIS WITHIN THE FRAMEWORK OF AN ASSISTED REPRODUCTIVE TECHNOLOGY PROGRAM FOR MARRIED COUPLES WITH A COMBINATION OF MUTATIONS AT THE AZF LOCUS OF THE Y CHROMOSOME AND CFTR GENE POLYMORPHISM IN HUSBANDS

Objective. To study the prevalence and pattern of gene disorders in patients with pathozoospermia; to examine the level and pattern of chromosomal abnormalities in the embryos of married couples with simultaneous mutation at the AZF locus of the Y chromosome and CFTR gene polymorphism in the husbands. Subjects and methods. Three hundred and eighty married couples with a male infertility factor who needed an in-vitro fertilization/intracytoplasmic sperm injection (ICSI) program were examined. All the men underwent a spermiological test of their ejaculates and molecular genetic analysis to detect gene disorders. In two married couples with primary infertility, whose husbands were found to have azoospermia and asthenoteratozoospermia and simultaneous mutation at the AZF locus of the Y chromosome and CFTR gene (5T allele) polymorphism, preimplantation diagnosis (PID) was made by the FISH technique, by choosing the sex of embryos. The FISH study of embryonic blastomere nuclei applied Abbott probes to the X, Y, 13, 18, and 21 chromosomes. Results. In the men with pathoazoospermia, mutations and CFTR gene polymorphism were detected in 12.6%; of them the 5T allele was 79% of cases; microdeletions at the AZF locus of the Y chromosome were found in 14.2%; out of them, microdeletion in the AZTc—del sY 1192 subregion was 59.6% of cases. PID of the embryos from married couples with simultaneous mutation at the AZF locus of the Y chromosome and CFTR gene polymorphism in the husbands indicated that 41.2% of the embryos examined had aneuploidy for sex chromosomes and 36.4% of the embryos had aneuploidy for autosomes 13, 18, and 21 (in one or a few chromosomes). Conclusion. The men with pathozoospermia are observed to have a high rate of gene disorders; these patients form a group at risk of birth of a sick baby. The men with pathozoospermia and simultaneous mutation at the AZF locus of the Y chromosome and CFTR gene polymorphism can transmit the existing mutations to their offspring and form a group at risk for birth of a baby with aneuploidy for different chromosomes.

Y chromosome microdeletions, mutations and CFTR gene polymorphism, aneuploidy, preimplantation diagnosis