Authors: M. Machatková; A. Krebsová; I. Smetanová; M. Matějčková; Š. Vilímová; A. Sobek 1; Sr. M. Macek Authors‘ workplace: Ústav biologie a lékařské genetiky 2. LF UK a FNM, Praha Fertimed, Olomouc Published in: Čas. Lék. čes. 2003; : 670-675 Category:
Background. The Y chromosome microdeletions belong to the frequent genetical causes of male infertility. The aimof our studywas to introduce reliablemolecular genetic diagnosis of Ychromosomal microdeletions and to determinethe prevalence of Y chromosomal microdeletions in Czech males with serious reproductive disorders.Methods and Results. The Ychromosomemicrodeletions were screened in 198Czech menwith serious reproductivedisorders with decreased sperm count. The Y chromosome microdeletions were disclosed in 8/198 (4.0 %) examinedmales. The AZFc deletion type was revealed in 62,5 % (5/8) and the combined AZFc+b microdeletion in 37,5 %(3/8) of cases. Neither isolated AZFb nor AZFa microdeletion were found in any subject of the investigated group.Conclusions. Incidence of individual types of Y chromosomal microdeletions in Czech males with seriousreproductive disorders was assessed. The standardisedmolecular genetic diagnosis ofYchromosomalmicrodeletionswas introduced into the practice.
Key words: male infertility, Y chromosome microdeletions, AZF region, azoospermia, oligozoospermia.
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