PREVALENCE OF Y CHROMOSOME MICRODELETIONS IN IRANIAN INFERTILE MEN (original) (raw)
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Prevalence of Y chromosome microdeletions in infertile Tunisian men
Annales de biologie clinique
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 su...
Partial and complete microdeletions of Y chromosome in infertile males from South of Iran
Molecular Biology Research Communications, 2016
Y chromosome microdeletions are the second genetic cause of male infertility. The incidence of Y chromosome microdeletions can vary considerably depending on several factors, including patient selection criteria, population composition, and diagnostic protocols. They are associated with spermatogenic failure and lead to azoospermia or oligozoospermia. The advance in assisted reproductive technology and intracytoplasmic sperm injection, and the possibility of genetic defect transmission to the next generation make it necessary to improve our knowledge about the various factors leading to spermatogenic impairment. This study was designed to determine the frequency of microdeletions of Y chromosome in a population from South of Iran. 81 infertile males with non-obstructive azoospermia or oligozoospermia were selected. Multiplex PCR using several STS markers was carried out to detect the complete or partial microdeletions. The frequency of both complete and partial microdeletions in men...
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.
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.
Clinical data for 185 infertile Iranian men with Y-chromosome microdeletion
Journal of Assisted Reproduction and Genetics, 2012
Detection of Y-chromosome microdeletion is useful to obtain reliable genetic information for assisted reproductive techniques, thus avoiding unnecessary treatment and vertical transmission of genetic defects. Purposes This research was conducted over a six-year period to analyze clinical data, somatic cytogenetic abnormalities, and types of microdeletions in men with fertility disorders in Iran. Methods and Patients A total of 3654 infertile men were included in this study. Semen samples were analyzed according to standard methods. Conventional chromosomal karyotyping was used to analyze chromosome abnormalities.
2021
Genetic causes of male infertility are abnormalities in chromosome numbers and/or structures, Y-chromosome deletions and gene mutations. Genetic screening of male infertility is rarely done in our country. The purpose of the study was to investigate the frequencies and types of Y chromosome microdeletions in infertile men, based on studies done in the Human Genetics Laboratory of the Pasteur Institute in Morocco. A total of 543 infertile men were screened for Y chromosome microdeletions. The prevalence of AZF Y-chromosome microdeletions among infertile men range from 3% to 10% depending on patients selected. The most frequent microdeletions were detected in the AZFc region, followed by AZFbc, AZFb, AZFa, AZFab. These results indicate the need for Y chromosome microdeletion screening for better management of infertile patients.We hope to encourage use of genetic diagnosis and also research in this field to initiate collaboration for clinical management and appropriate genetic diagno...
Y Chromosome Microdeletions in Pakistani Infertile Men
2017
Objective: To determine the prevalence of Y chromosome microdeletions in Pakistani idiopathic infertile men, using multiplex polymerase chain reaction. Patients and Methods: A case control study was conducted on the infertile male patients attending OPD’s of Aziz Medical Hospital and National Center for Fertility Control, Jinnah Post Graduate Medical Center (JPMC), Karachi. A total of 220 primary infertile men, of which 150 (68.2%) had azoospermia, 40 (18.2%) had severe oligozoospermia and 30 (13.6%) had oligozoospermia and 220 fertile men as control group were studied. Six sequence-tagged sites: sY84 and sY86 for AZFa, sY127 and sY134 for AZFb, and sY254 and sY255 for AZFc were used for amplification of the azoospermia factor region of Y chromosome according to the recommendations of European Academy of Andrology and the European Quality Monitoring Network Group. Results: Yq microdeletions were found in (12) 5.45% cases, while none in the control group (p =<0.007). All the micro...
The incidence of Y-chromosome microdeletions in Pakistani infertile men
Current Opinion in Biotechnology, 2011
Background: Microdeletions of the azoospermia factor locus of the long arm of Y chromosome are an etiological factor of severe oligozoospermia or azoospermia. Objective: The aim of this study was to investigate the prevalence of Ychromosome microdeletions in AZF region and their role in infertility in Pakistani population. Materials and Methods: The type of deletions in AZF locus were detected in infertile men (n=113) and the association of Y chromosome microdeletions with male infertility was assessed by including men (50) with normal karyotype and having children. Y chromosome microdeletions were detected by multiplex PCR using 10 sequence tagged sites namely sY81, sY130, sY141, sY142, sY155, sY157, sY160, sY182, sY231, and sY202 that covered all three regions of AZF. Results: Individuals with severe oligozoospermia showed 2.86% deletion frequency in AZFc region as compared to azoospermic males (5.5%). Conclusion: The results of our study showed that deletions in Y chromosome are not playing major part in male infertility. Moreover, multiplex-PCR strategy might preferably be employed for the detection of Y chromosome microdeletions allied to male infertility.
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.