Partial and complete microdeletions of Y chromosome in infertile males from South of Iran (original) (raw)
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PREVALENCE OF Y CHROMOSOME MICRODELETIONS IN IRANIAN INFERTILE MEN
Yq microdeletions are the leading genetic cause of male infertility and its detection in clinically relevant for appropriate genetic counseling. The objective of this study was to determine the frequency of Y microdeletion in a group of Tunisian infertile men and to compare the prevalence of these abnormalities with other countries and other Tunisian reported series. Totally, 105 Tunisian idiopathic infertile men (74 azoospermic and 31 severe oligozoospermic) were screened for the presence of Y chromosome microdeletions. The screening of Yq microdeletions was performed by two multiplex PCRs using six STS markers recommended by the EAA/EMQN. No microdeletions were detected in the men with severe oligozoospermia. In the azoospermic group, 2/74 (2.7%) patients showed Y chromosome microdeletions. Both had complete deletion of the AZFc region. No microdeletion was identified in the AZFa region or in the AZFb region. The estimated frequency of Y chromosome microdeletions in the present survey was similar to some other reports but lower than that of previous reports in Tunisian populations.
Volume 19, Number 1, Apr-Jun (Spring) 2017, Serial Number: 73, Pages: 1-172, 2017
Objective: Microdeletions of the Y chromosome long arm are the most common molecular genetic causes of severe infertility in men. They affect three regions including azoospermia factors (AZFa, AZFb and AZFc), which contain various genes involved in spermatogenesis. The aim of the present study was to reveal the patterns of Y chromosome microdeletions in Iranian infertile men referred to Royan Institute with azoospermia/ severe oligospermia. Materials and Methods: Through a cross-sectional study, 1885 infertile men referred to Royan Institute with azoospermia/severe oligospermia were examined for Y chromosome microdeletions from March 2012 to March 2014. We determined microdeletions of the Y chromosome in the AZFa, AZFb and AZFc regions using multiplex Polymerase chain reaction and six different Sequence-Tagged Site (STS) markers. Results: Among the 1885 infertile men, we determined 99 cases of Y chromosome micro-deletions (5.2%). Among 99 cases, AZFc microdeletions were found in 70 cases (70.7%); AZFb microdeletions in 5 cases (5%); and AZFa microdeletions in only 3 cases (3%). AZFbc microdeletions were detected in 18 cases (18.1%) and AZFabc microdeletions in 3 cases (3%). Conclusion: Based on these data, our results are in agreement with similar studies from other regions of the world as well as two other recent studies from Iran which have mostly reported a frequency of less than 10% for Y chromosome microdeletions.
Cell Journal (Yakhteh), 2017
Objective Microdeletions of the Y chromosome long arm are the most common molecular genetic causes of severe infertility in men. They affect three regions including azoospermia factors (AZFa, AZFb and AZFc), which contain various genes involved in spermatogenesis. The aim of the present study was to reveal the patterns of Y chromosome microdeletions in Iranian infertile men referred to Royan Institute with azoospermia/ severe oligospermia. Materials and Methods Through a cross-sectional study, 1885 infertile men referred to Royan Institute with azoospermia/severe oligospermia were examined for Y chromosome microdeletions from March 2012 to March 2014. We determined microdeletions of the Y chromosome in the AZFa, AZFb and AZFc regions using multiplex Polymerase chain reaction and six different Sequence-Tagged Site (STS) markers. Results Among the 1885 infertile men, we determined 99 cases of Y chromosome microdeletions (5.2%). Among 99 cases, AZFc microdeletions were found in 70 case...
Chromosome Microdeletions in Infertile Men from South West of Iran
2015
Today, with advances in assisted reproductive techniques, many infertile couples are able to have children. However, there is always risk of passing genetic abnormalities associated with infertility from parents to children. Therefore, detection of microdeletions of Y chromosome in patients with spermatogenesis failure seems very important. The purpose of this study was to determine the frequency of microdeletions in Y chromosome in infertile men with non-obstructive azoospermia or severe oligozoospermia in South West of Iran, Shiraz. 60 infertile men with severe oligozoospermia and non-obstructive azoospermia were examined. Multiplex PCR was applied to detect the microdeletions. Frequency of microdeletions in men with severe oligozoospermia and azoospermia was 8.3%. All deletions were observed in AZFc region. This study emphasizes that analysis of microdeletions should be carried out for all patients with idiopathic azoospermia and severe oligospermia who are candidates for intra c...
Y chromosome microdeletions in idiopathic infertile men from West Azarbaijan
Urology Journal, 2006
Introduction: Although assisted reproduction techniques are used extensively in Iran, screening for Y chromosome microdeletions before intracytoplasmic sperm injection is often undervalued. Our aim was to investigate Y chromosome microdeletions in men with idiopathic azoospermia or severe oligospermia. Materials and methods: In 99 selected patients with azoospermia or severe oligospermia and elevated levels of follicle-stimulating hormone and luteinizing hormone in combination with low serum testosterone levels, 20 pairs of sequence-tagged site-based primer sets specific for the Y microdeletion loci were analyzed. Primers were chosen to cover azoospermia factor (AZF) regions as well as deleted in azoospermia (DAZ) and the sex-determining region on Y chromosome (SRY) genes. Also, 100 healthy men served as a control group. Results: Twenty-four patients (24.2%) had microdeletions in AZF genes, but no microdeletions were found in men in the control group. In 15 patients (62.5%), 1 deletion was found. Six patients (25%) had 2, and 3 (12.5%) had 3 deletions. The deletions mainly comprised the AZFc region (in 21 of 24 patients; 87.5%), which corresponds to the DAZ gene. Deletions in AZFb were found in 7 patients (29.2%), and 4 (16.7%) had deletions in the proximal part of AZF regions near SRY gene. No microdeletions were seen in the AZFa or SRY gene. Conclusion: Our results emphasize that Y chromosome microdeletion analysis should be carried out in all patients with idiopathic azoospermia or severe oligospermia who are candidates for intracytoplasmic sperm injection.
Prevalence of Y chromosome microdeletion in azoospermic infertile males of Iraqi population
Journal of Genetics, 2020
In human gamete development, the important period is spermatogenesis, which is organized by specific genes on Y chromosome. In some cases, the infertile men have shown microdeletions on Y chromosome, which seemed as if the structural chromosome variance is linked to the reduction of sperm count. This study aimed to determine the frequency and patterns of Y chromosome microdeletions in azoospermia factor (AZF) of Iraqi infertile males. Here, 90 azoospermic infertile males as a study group and 95 normal fertile males as control group were investigated for the microdeletion of AZF loci using numerous sequence-tagged sites. Of these 90 infertile male patients, 43 (47.8%) demonstrated Y chromosome microdeletions, in which AZFb region was the most deleted section in azoospermia patients (33.3%) followed by deletions in the AZFc region (23%), while there were no microdeletion in the AZFa region. The largest microdeletion involved in both AZFb and AZFc was detected in six azoospermic patients (6.7%). The present study demonstrated a high frequency of Y chromosome microdeletions in the infertile Iraqi patients which is not reported previously. The high frequency of deletions may be due to the association of ethnic and genetic factors. PCR-based Y chromosome screening for microdeletions has a potential to be used in infertility clinics for genetic counselling and assisted reproduction.
Detection of Y-Chromosome microdeletions in Egyptian infertile males
Journal of Scientific Research in Science, 2019
The major genetic causes in male infertility are chromosomal abnormalities and Y chromosomal microdeletions (YCMs). YCMs occur in approximately 15% of azoospermic patients and 10% of severe oligospermic patients. These microdeletions lead to spermatogenic failure. This study aims to report the incidence of Azoospermia factor (AZF) microdeletions in Egyptian infertile males with severe oligoospermia & non obstructive azoospermia (NOA) using multiplex PCR. One hundred-fifty infertile males were included. Semen analysis, hormonal assay, karyotyping, testicular sperm extraction and testicular biopsy were performed.Y chromosome microdeletions were detected by using multiplex polymerase chain reaction (PCR). Among 150 infertile males; Considering Y chromosome; in severe oligospermic infertile males 3/36 (8.3%) had Y chromosome microdeletions in AZF subregions where; 1/3(33.3%) showed deletions in AZF-c and 2/3(66.7%) showed deletions in both AZF-b+c. However; no deletions were detected in AZF-a region in this group. In NOA group, 21/114(18.4%) had Y chromsome microdeletions in AZF subregions where; 1/21 (4.8%) showed deletions in AZFb region, 2/21 (9.5%) showed deletion in both of AZF-a+b+c regions, 8/21 (38%) showed deletions in AZF-c region only and 10/21 (47.6%) showed deletions in both AZF-b+c regions. Conclusion: The frequency of Y chromosome microdeletions in our studied patients was similar to many ethnic reports. Detection of AZF microdeletions is necessary for proper genetic diagnosis in infertile males. AZFc can help informed decisions regarding positive testicular sperm extraction outcome.
Molecular Human Reproduction, 1996
Overall, -11% of men attending infertility clinics suffer unexplained oligo-or azoospermia. Cytogenetic observations of loss of the distal portion of the Y chromosome long arm (Yq) were found to be associated with disrupted spermatogenesis. The existence of a gene locus involved in the regulation of spermatogenesis, the azoospermia factor (AZF), was thus postulated. It is suggested that microdeletions, or mutations, at the AZF locus could result in impaired spermatogenesis in chromosomally normal men. In order to test this hypothesis we have carried out Y chromosome genetic screening of 100 oligo-or azoospermic 46XY patients. We have also assessed phenotype/genotype relationships in those patients whose infertility has an underlying genetic aetiology. Patients were screened by polymerase chain reaction (PCR) with a set of Y chromosomespecific sequence tagged sites (STS) for submicroscopic deletions of their Y chromosome. Our results show that as many as 8% of cases of unexplained male infertility may have an underlying genetic aetiology related to microdeletions in two specific regions of the Y chromosome. Positive results from such a screen will be important when deciding the suitability of a patient for assisted conception schemes such as intracytoplasmic sperm injection.
Systems Biology in Reproductive Medicine, 2019
Infertility is one of the major health-threatening problems in communities which may lead to psychological problems among couples. Y chromosome abnormalities and microdeletions have recently been considered as one of the male infertility factors. The aim of this study was to evaluate different chromosomal disorders and azoospermia factor b (AZFb), AZFc and AZFd microdeletions in idiopathic non-obstructive oligo or azoospermia infertile men. One hundred infertile (78 azoospermia and 22 oligospermia) and 100 fertile men were included in this study. Luteinizing hormone (LH) and follicle stimulating hormone (FSH) levels were evaluated by electrochemiluminescence. Karyotyping was performed according to standard methods and interpreted using the International System for Human Cytogenetic Nomenclature (ISHCN) recommendation. For Y chromosome microdeletion analysis, a multiplex polymerase chain reaction (PCR) was performed using STS primers. Higher FSH (24.32 ± 15.32 versus 8.02 ± 3.37, p < 0.0001) and LH (14.97 ± 8.26 versus 5.42 ± 2.73, p < 0.0001) were observed in infertile patients compared to their fertile counterpart. Additionally, 14% of infertile patients exhibited abnormal karyotype. The frequency of Y chromosome microdeletions in azoospermic and oligospermic patients was 32.05% (25/78) and 0% (0/22), respectively. Additionally, in azoospermic patients, the highest microdeletion frequency was related to the AZFc region (80%). Our data indicate the presence of chromosomal changes in the most infertile men, suggesting karyotype and molecular analysis of Y chromosome microdeletions for genetic counseling before assisted reproduction.
Y chromosome microdeletions in Turkish infertile men
Indian Journal of Human Genetics, 2006
To detect the frequency and types of both chromosomal abnor malities and Y chromosome microdeletions in infertile men attending to our university intracytoplasmic sperm injection ICSI/IVF centre and fertile control subjects in our patient population. SETTINGS AND DESIGN: A total of 50 infertile men who were referred to IVF center of Meram medical faculty were selected for the molecular azospermia factor (AZF) screening program. MATERIALS AND METHODS: Karyotype analysis and polymerase chain reaction amplification using 15 Y-specific sequence-tagged sites of AZF region were done. RESULTS: The total prevalence of chromosomal abnormalities was found to be 10% (5/50), including 4 patients with numerical and 1 patient with structural abnormalities. Overall, 4 of the 50 patients tested (8%) exhibited deletions of the Y chromosome, 3 of them being azospermic and 1 of them oligospermic men.The frequency of the microdeletions in subgroups with azospermia and oligozoospermia was found to be 10.7% (3/29) and 4.7% (1/21) respectively. Microdeletions of AZFb and AZFc regions were detected in all of the 4 patients. Neither AZFa nor AZFd microdeletions were indicated. CONCLUSIONS: Our findings suggest that one must know whether there is a genetic cause for male infertility before patients can be subjected to ISCI or testicular sperm extraction (TESE)/ISCI treatment.