scholarly journals Prevalence of Y chromosome microdeletion in azoospermia factor subregions among infertile men from West Bengal, India

Author(s):  
Saurav Dutta ◽  
Pranab Paladhi ◽  
Samudra Pal ◽  
Gunja Bose ◽  
Papiya Ghosh ◽  
...  
Urology ◽  
2020 ◽  
Vol 146 ◽  
pp. 113-117
Author(s):  
Mazhar Ortac ◽  
Rifat Ergul ◽  
Mehmet Gurcan ◽  
Tugba Kalayci ◽  
Sukru Palanduz ◽  
...  

2021 ◽  
Vol 8 (3) ◽  
pp. 310-313
Author(s):  
Manisha B Sinha ◽  
Suprava Patel ◽  
Nilaj Bagde ◽  
H P Sinha ◽  
Apoorva Joshi

Genetic factors contribute to 15% of all causes of male infertility. Y chromosome microdeletion is the second most common genetic cause of male infertility. Screening is important for Yq microdeletion as the defect can be transferred to offspring. Aim of our study is to detect the frequency of Y chromosome microdeletion in idiopathic infertile men using both EAA and non EAA markers in central region of India. Forty men from infertility clinic, seeking treatment of infertility were recruited in the study as cases. Thirty normal fertile men of same origin were recruited as controls. Semen analysis was done and cytogenetic normal infertile men were included in the study. Simplex and multiplex PCR methods were used to detect Yq microdeletions. Frequency of deletion was 11/40 (27.5%). Single deletion of AZF a,b,c were 12.5%, 7.5%, 2.5% respectively (). Double deletions of AZF a+c and b+c were 2.5% each (). Two subjects showed deletion for more than one loci. Overall frequency of deletion depends on sample size, no of markers used, inclusion criteria of subjects and geographic location. So, the screening is important for Yq microdeletion as the defect may be inherited to offspring.


Author(s):  
Sepideh Gholami Yarahmadi ◽  
Saeid Morovvati ◽  
Monireh Raam ◽  
Ziba Morovvati

Background and Aims: Azoospermia factor (AZF) region of the Ychromosome has several genes which are responsible for normal spermatogenesis. Microdeletions of these genes are associated with azoospermia and oligospermia. These microdeletions are too small to be detected by karyotyping. They can be easily identified using polymerase chain reaction. The aim of this study is to determine the frequencies of Ychromosome microdeletions in azoospermic and oligospermic Iranian infertile men and compare them with other studies in different ethnic groups. Materials and Methods: At first, karyotype analysis was performed in 80 infertile men and 30 healthy age-matched counterparts as control group using standard cytogenetic methods. Second, genomic DNA was extracted from all cases and genetic screening was conducted for Y chromosome microdeletions by multiplex polymerase chain reaction for AZF genes on both infertile and control men using 6 STS markers on the long arm of the Y chromosome. Results: Totally, 49 infertile men were azoospermic and 31 were oligospermic. Y-chromosome microdeletions in the AZFc region were detected in 4 of azoospermic patients. Y-chromosome microdeletions was not detected in any of the oligospermic patients and the control group. Conclusions: This finding recommends that genetic counseling and screening before starting assisted reproductive techniques such as in vitro fertilisation and intracytoplasmic sperm injection can prevent unnecessary treatment and transmission of genetic defects to offspring


Urology ◽  
2013 ◽  
Vol 82 (3) ◽  
pp. 584-588 ◽  
Author(s):  
Yong-Sheng Zhang ◽  
Ru-Lin Dai ◽  
Rui-Xue Wang ◽  
Hong-Guo Zhang ◽  
Shuang Chen ◽  
...  

Author(s):  
Г.Р. Шахсуварян ◽  
Р. Караханян ◽  
Т.Ф. Саркисян ◽  
В.Л. Ижевская

Микроделеции длинного плеча Y-хромосомы являются частой генетической причиной мужского бесплодия, связанного с азооспермией и олигозооспермией. В различных этнических группах частота встречаемости микроделеций Y-хромосомы может существенно варьировать, а их спектр иметь определенные особенности. Целью представленного исследования являлось определение частоты и структуры микроделеционных изменений локуса AZF у мужчин армянской национальности с бесплодием для оптимизации диагностических и лечебных мероприятий с применением вспомогательных репродуктивных технологий. The long arm of the Y chromosome microdeletions are common genetic cause of male infertility, related with azoospermia and oligozoospermia. The frequency of various Y-chromosome microdeletions can vary significantly in different ethnic groups and have certain features. The aim of the presented research is to determine the frequency and spectrum of AZF (azoospermia factor) microdeletions in infertile men of Armenian nationality, in order to optimize diagnostic and therapeutic measures using assisted reproductive technologies.


2014 ◽  
Vol 26 (6) ◽  
pp. 778 ◽  
Author(s):  
Xiao-Hong Liu ◽  
Li-Ying Yan ◽  
Cui-Ling Lu ◽  
Rong Li ◽  
Xiao-Hui Zhu ◽  
...  

Y-chromosome microdeletions (YCMs) have been found at a much higher rate in infertile men than fertile controls. A specific deletion in the azoospermia factor locus (AZF) at Yq11 is significantly associated with male infertility. Whether assisted reproductive technology (ART) increases the risk of YCM in ART-derived offspring remains unclear. In this study the occurrence of YCM in 199 fathers and their 228 sons (Chinese, Han ethnicity), including 85 offspring conceived by IVF, 73 by intra-cytoplasmic sperm injection (ICSI) and 70 by natural conception, was investigated. Nineteen candidate genes related to YCM were analysed by multiplex ligation-dependent probe amplification. We identified one de novo YCM from 70 naturally-conceived offspring and none from 158 ART-conceived offspring and found no statistical significance between these two groups. There was no statistically-significant difference in the detection rate of the father’s Y-chromosome microdeletion group: IVF 10.7% (8/75), ICSI 3.2% (2/63), natural conception 8.2% (5/61). These results suggest that ART does not increase the risk of YCM in male offspring.


2017 ◽  
Vol 153 (4) ◽  
pp. 190-197 ◽  
Author(s):  
Shin Y. Kim ◽  
Bom Y. Lee ◽  
Ah R. Oh ◽  
So Y. Park ◽  
Hyo S. Lee ◽  
...  

To investigate the clinical, hormonal, and genetic factors in infertile men with idiopathic nonobstructive azoospermia (NOA) or azoospermic Klinefelter syndrome (KFS), a total of 556 and 96 patients, respectively, were included in this study. All patient samples were analyzed cytogenetically. Serum reproductive hormone levels were measured. Microdeletions in the azoospermia factor (AZF) region of the Y chromosome were detected by multiplex PCR using 16 specific sequence-tagged sites. FSH and LH levels in both NOA and KFS patients were significantly higher than the normal range, and the testosterone level in KFS patients was significantly lower. Ninety-two (95.8%) of the KFS patients showed non-mosaic 47,XXY karyotypes and 47,XXY,inv(9)(p11.1q13); the other KFS patients had mosaic karyotypes of 47,XXY/46,XY, 47,XXY/46,XX, and 47,XXY/48,XXXY/46,XX. Among the 556 idiopathic NOA patients with normal karyotypes, 67 (12.05%) had microdeletions in the AZF region of the Y chromosome. Microdeletions were most frequently detected in the AZFc region, followed by AZFa, AZFb, AZFbc, and partial AZFc deletions. However, Y chromosome microdeletions were not found in any of the azoospermic KFS patients. In view of the hormonal and genetic abnormalities in infertile men with idiopathic NOA and with azoospermic KFS, genetic testing for karyotype, Y chromosome microdeletions, and hormonal parameters is advocated.


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