According to the latest data,globally 15%of couples have infertility and male infertility contributes to 10%of all cases.Infertility can be caused by certain biological changes in the gonads and the reproductive syste...According to the latest data,globally 15%of couples have infertility and male infertility contributes to 10%of all cases.Infertility can be caused by certain biological changes in the gonads and the reproductive system like azoospermia,oligospermia,asthenospermia,teratozoospermia and hypospermatogenesis.Genetic causes of azoospermia include chromosomal abnormalities,Y chromosome microdeletions and deletion or other mutations of Y-linked genes.The maximum number of the genes are located in the azoospermia factor region of the long arm(Yq)of the Y chromosome.Y chromosome microdeletion is known as the second major genetic cause of spermatogenetic failure.This article aims to review the latest updates on the involvement of Yq microdeletions in male infertility.The diagnostics,prevalence and phenotypic spectrum related to Yq gene microdeletions are discussed.展开更多
Objective: To identify microdeletions in azoospermia factor(AZF) gene loci in patients with idiopathic azoospermia and severe oligozoospermia in Fujian. Methods: Molecular genetic detection method was used to detect m...Objective: To identify microdeletions in azoospermia factor(AZF) gene loci in patients with idiopathic azoospermia and severe oligozoospermia in Fujian. Methods: Molecular genetic detection method was used to detect microdeletion at the AZFa, AZFb, AZFc /DAZ,SRY region of Y chromosome in 47 azoospermia and 4 severe oligozoospermia patients. Genomic DNA was extracted from peripheral blood. The sequence tagged site (STS) primers tested in each cases were sY84(AZFa), sY 143(AZFb) sY254(AZFc).SRY region of Y chromosome for control. The PCR products were analyzed on a 2.0% agarose gel. Results: Microdeletions of the Y-chromosomal AZF loci were revealed in 18(35.3%,18/51) of 51 patients with idiopathic azoospermia and severe oligozoospermia. AZFa deletion was found in four (7.8%) patients, AZF b in five (9.8%) patients, AZF c in four (7.8%) patients. AZF a+b in one(1.9%)patient, AZF b+c in two (3.9%) patients, AZF a+b+c in two (3.9%)patients respectively. No deletion of SRY region was found. No deletion of AZF a, AZF b, AZF c/DAZ,SRY regions was found in five fertile male who had at least one or more children. Conclusions: Microdeletions on AZF/DAZ gene loci were major genetics defects leading to azoospermia and severe oligozoospermia in male idiopathic infertility in Fujian. It is necessary to have genetic counseling and carry out microdeletion detection on AZF/DAZ gene loci before performing intracytoplasmic sperm injection (ICSI).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According to the latest data,globally 15%of couples have infertility and male infertility contributes to 10%of all cases.Infertility can be caused by certain biological changes in the gonads and the reproductive system like azoospermia,oligospermia,asthenospermia,teratozoospermia and hypospermatogenesis.Genetic causes of azoospermia include chromosomal abnormalities,Y chromosome microdeletions and deletion or other mutations of Y-linked genes.The maximum number of the genes are located in the azoospermia factor region of the long arm(Yq)of the Y chromosome.Y chromosome microdeletion is known as the second major genetic cause of spermatogenetic failure.This article aims to review the latest updates on the involvement of Yq microdeletions in male infertility.The diagnostics,prevalence and phenotypic spectrum related to Yq gene microdeletions are discussed.
文摘Objective: To identify microdeletions in azoospermia factor(AZF) gene loci in patients with idiopathic azoospermia and severe oligozoospermia in Fujian. Methods: Molecular genetic detection method was used to detect microdeletion at the AZFa, AZFb, AZFc /DAZ,SRY region of Y chromosome in 47 azoospermia and 4 severe oligozoospermia patients. Genomic DNA was extracted from peripheral blood. The sequence tagged site (STS) primers tested in each cases were sY84(AZFa), sY 143(AZFb) sY254(AZFc).SRY region of Y chromosome for control. The PCR products were analyzed on a 2.0% agarose gel. Results: Microdeletions of the Y-chromosomal AZF loci were revealed in 18(35.3%,18/51) of 51 patients with idiopathic azoospermia and severe oligozoospermia. AZFa deletion was found in four (7.8%) patients, AZF b in five (9.8%) patients, AZF c in four (7.8%) patients. AZF a+b in one(1.9%)patient, AZF b+c in two (3.9%) patients, AZF a+b+c in two (3.9%)patients respectively. No deletion of SRY region was found. No deletion of AZF a, AZF b, AZF c/DAZ,SRY regions was found in five fertile male who had at least one or more children. Conclusions: Microdeletions on AZF/DAZ gene loci were major genetics defects leading to azoospermia and severe oligozoospermia in male idiopathic infertility in Fujian. It is necessary to have genetic counseling and carry out microdeletion detection on AZF/DAZ gene loci before performing intracytoplasmic sperm injection (ICSI).
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.
