Author/Editor		Kunej, Tanja
Title		Mikrodelecije Y kromosoma pri neplodnih moških
Translated title		Microdeletions of the Y chromosome in infertile men
Type		monografija
Place		Ljubljana
Publisher		Medicinska fakulteta
Publication year		2000
Volume		str. 46
Language		slo
Abstract		Background. Y chromosome microdeletions may be responsible for reduced male fertility. The frequency of patients with Y chromosome microdeletions in Slovene infertile men is not known anf the reŠprted frequency of deletions differ among studies. The correlation between the position and size of Y chromosome deletions and clinical characteristics is not clear. We wanted to demonstrate that Y chromosome microdeletions are the cause of infertility alsi in the population of Slovene infertile men. We wanted to assess the frequency of Y chromosome microdeletions in infertile men and find the microdeletion rate in patients with azoospermia, oligozoospermia or oligoasthenozoospermia (OAT). We wanted to analyse the presence or absence of all known genes of the Y chromosome involved in sprematogenesis. The size and site of microdeletions were compared to clinical picture such as spermiogram, hormonal and histological findings. The potential effect of these deletions on the fertilization and pregnancy rates in ICSI procedure was analysed. Methods. We analysed a group of 264 infertile men with a dysfunction of spermatogenesis (azoospermia and oligozoospermia or OAT). Ten men with abdrological, and 26 men with cytogenetic abnormalities were excluded from the study. Using molecular genetic methods, including polymerase chain reaction - PCR, we analysed a group of 228 infertile patients: 93 with azoospermia and 135 with oligozoospermia or OAT. In the control group 125 men with proven fertility and 10 women were enrolled. We analysed the presence or absence of 59 Y-specific loci. Results. Using molecular genetic methods, we found 11 patients with microdeletions of the Y chromosome in a group of 228 infertile men. Two of them had a deletion, previously found by cytogenetic methods. (Abstract truncated at 2000 characters).
Descriptors		INFERTILITY, MALE Y CHROMOSOME CHROMOSOME DELETION OLIGOSPERMIA POLYMERASE CHAIN REACTION SEMEN FSH TESTIS BIOPSY CYTOGENETICS