Aim:To establish the frequency of Y chromosome microdeletions in an unselected group of infertile Croatian men. Methods:An unselected group of 105 patients (male partners of infertile couples),both with idiopathic and...Aim:To establish the frequency of Y chromosome microdeletions in an unselected group of infertile Croatian men. Methods:An unselected group of 105 patients (male partners of infertile couples),both with idiopathic and non- idiopathic infertility,consecutively referred to the outpatient infertility clinic,gynecology department,General Hospital Pula,Istria County,Croatia,was examined for the presence or absence of Y chromosome microdeletions by poly- merase chain reaction analysis.Results:One of the 105 men (0.95 %,95 % CI=0.17-5.2 %) was found to have a microdeletion.Conclusion:A low frequency of Y chromosome microdeletions was found in the group of unselected infertile Croatian men.展开更多
Objective To determine the incidence of azoospermia faetor （AZF） microdeletions of Y chromosome in male infertility and to investigate the mechanism of sex-determining region Y （SRY） in sex differentiation. Method...Objective To determine the incidence of azoospermia faetor （AZF） microdeletions of Y chromosome in male infertility and to investigate the mechanism of sex-determining region Y （SRY） in sex differentiation. Methods The mierodeletion of AZF was detected by multiplex polymerase chain reaction （PCR） using Y-chromosome specific sequence tagged sites （STSs）, and SRY was analyzed by PCR and sequencing. Results There were 100 cases with AZF microdeletion and the ratio of AZF microdeletion was 6.8% over all 1 474 cases. The ratios of AZF microdeletion of azoospermia group and severe oligozoospermia group were 9.0% and 7.1%, respectively, which was significantly different from oligozoospermia group （P〈 0. 05）. There were 67 cases with 5 STSs mierodeletion of sY152, sY239, sY243, sY254 and sY255. There were 20 cases with long fragment deletion more than 10 STSs, and the patterns of AZF microdeletion in other 13 cases were rare. In all 9 patients with disorders of sex differentiation, there were 6patients with SRY-absent and AZF-absent. There was no mutation of SRY gene by sequencing in other 3 patients with SRY-positive. Conclusion Deletions in AZF region of Y chromosome are specific with diagnoses with spermatogenesis disorder. Deletions of sY152, sY239, sY243, sY254 and sY255 occur the most frequently. SRY was an important candidate gene of testis-determining factor （TDF） gene.展开更多
文摘Aim:To establish the frequency of Y chromosome microdeletions in an unselected group of infertile Croatian men. Methods:An unselected group of 105 patients (male partners of infertile couples),both with idiopathic and non- idiopathic infertility,consecutively referred to the outpatient infertility clinic,gynecology department,General Hospital Pula,Istria County,Croatia,was examined for the presence or absence of Y chromosome microdeletions by poly- merase chain reaction analysis.Results:One of the 105 men (0.95 %,95 % CI=0.17-5.2 %) was found to have a microdeletion.Conclusion:A low frequency of Y chromosome microdeletions was found in the group of unselected infertile Croatian men.
文摘Objective To determine the incidence of azoospermia faetor （AZF） microdeletions of Y chromosome in male infertility and to investigate the mechanism of sex-determining region Y （SRY） in sex differentiation. Methods The mierodeletion of AZF was detected by multiplex polymerase chain reaction （PCR） using Y-chromosome specific sequence tagged sites （STSs）, and SRY was analyzed by PCR and sequencing. Results There were 100 cases with AZF microdeletion and the ratio of AZF microdeletion was 6.8% over all 1 474 cases. The ratios of AZF microdeletion of azoospermia group and severe oligozoospermia group were 9.0% and 7.1%, respectively, which was significantly different from oligozoospermia group （P〈 0. 05）. There were 67 cases with 5 STSs mierodeletion of sY152, sY239, sY243, sY254 and sY255. There were 20 cases with long fragment deletion more than 10 STSs, and the patterns of AZF microdeletion in other 13 cases were rare. In all 9 patients with disorders of sex differentiation, there were 6patients with SRY-absent and AZF-absent. There was no mutation of SRY gene by sequencing in other 3 patients with SRY-positive. Conclusion Deletions in AZF region of Y chromosome are specific with diagnoses with spermatogenesis disorder. Deletions of sY152, sY239, sY243, sY254 and sY255 occur the most frequently. SRY was an important candidate gene of testis-determining factor （TDF） gene.
