Avtor/Urednik		Kunej, Tanja
Naslov		Analiza genetskih vzrokov za neplodnost pri moškem
Prevedeni naslov		Analysis of gentic factors for male knfertility
Tip		monografija
Kraj izdaje		Ljubljana
Založnik		Medicinska fakulteta
Leto izdaje		2002
Obseg		str. 134
Jezik		slo
Abstrakt		Background. Numerous genetic factors are involved in male infertility, Y chromosome microdeletions (YCM) and cytogenetic abnormalities being the most widely investigated. We sought to determine the proportion of infertile men with YCM in the Slovene population and we explored the potential influence of YCM on the assisted reproductive technology (ART) outcome. We wanted to elucidate which genes of the Y chromosome are responsible for male infertility. We wanted to examine the proposed relationships between YCM and infertility phenotype more precisely. We wanted to identify Y chromosome specific loci, predicting the presence or the absence of mature germ cells in infertile men. We designed an optimal diagnostic test for the routine diagnosis of YCM. We tested the hypothesis that a causal relationship exists between YCM and cryptorchidism. We estimated the frequency of cytogenetic abnormalities in Slovene infertile men and the influence of chromosome abnormalities on the outcome of ART. In addition to the direct genetic causes for male infertility (YCM and chromosome abnormalities) there exist modifying genetic causes, affecting infertility to a lesser extent. We tested the hypothesis, whether the genetic variability of the genes we chose (AR, DMPK, ACE and apo B) is a risk factor for male infertility. Methods. The study group consisted of 417 infertile men: 197 with azoospermia, 201 with oligozoospermia or oligoasthenoteratozoospermia (OAT) and 19 with normozoospermia, and the control group of 162 fertile men. Using polymerase chain reaction (PCR) the presence or the absence of 59 loci of the Y chromosome was performed in 352 infertile men. (Abstract truncated at 2000 characters).
Deskriptorji		INFERTILITY, MALE Y CHROMOSOME CHROMOSOME DELETION OLIGOSPERMIA CRYPTORCHIDISM PHENOTYPE POLYMERASE CHAIN REACTION RECEPTORS, ANDROGEN PEPTIDYL-DIPEPTIDASE A APOLIPOPROTEINS B