2016
DOI: 10.1038/srep21831
|View full text |Cite
|
Sign up to set email alerts
|

Novel Y-chromosomal microdeletions associated with non-obstructive azoospermia uncovered by high throughput sequencing of sequence-tagged sites (STSs)

Abstract: Y-chromosomal microdeletion (YCM) serves as an important genetic factor in non-obstructive azoospermia (NOA). Multiplex polymerase chain reaction (PCR) is routinely used to detect YCMs by tracing sequence-tagged sites (STSs) in the Y chromosome. Here we introduce a novel methodology in which we sequence 1,787 (post-filtering) STSs distributed across the entire male-specific Y chromosome (MSY) in parallel to uncover known and novel YCMs. We validated this approach with 766 Chinese men with NOA and 683 ethnicall… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
1
1
1

Citation Types

0
7
0

Year Published

2017
2017
2025
2025

Publication Types

Select...
7
2

Relationship

1
8

Authors

Journals

citations
Cited by 11 publications
(7 citation statements)
references
References 34 publications
0
7
0
Order By: Relevance
“…In total, 1880 Han Chinese patients with azoospermia were recruited for this study from the Center of Reproductive Medicine, Tongji Medical College, Huazhong University of Science and Technology, from January 2007 to October 2011. Among them, 776 patients meeting the following criteria for NOA diagnosis were selected for further study: (1) no sperm detected in the pellets of semen samples on 3 different occasions; (2) no obstruction, inflammation, or injury of the reproductive system or pelvic cavity; and (3) no karyotypic abnormality or Y-chromosome microdeletion 6 , 28 , 29 . 709 fertile Han Chinese men who had fathered at least one child without assisted reproductive techniques, were recruited as controls from the Center of Physical Examination, Peking University Shenzhen Hospital.…”
Section: Methodsmentioning
confidence: 99%
“…In total, 1880 Han Chinese patients with azoospermia were recruited for this study from the Center of Reproductive Medicine, Tongji Medical College, Huazhong University of Science and Technology, from January 2007 to October 2011. Among them, 776 patients meeting the following criteria for NOA diagnosis were selected for further study: (1) no sperm detected in the pellets of semen samples on 3 different occasions; (2) no obstruction, inflammation, or injury of the reproductive system or pelvic cavity; and (3) no karyotypic abnormality or Y-chromosome microdeletion 6 , 28 , 29 . 709 fertile Han Chinese men who had fathered at least one child without assisted reproductive techniques, were recruited as controls from the Center of Physical Examination, Peking University Shenzhen Hospital.…”
Section: Methodsmentioning
confidence: 99%
“…Recently, it has been shown by first high throughput sequencing of sequence-tagged sites (STSs) along AZFb and AZFc in fertile and infertile men from China that numerous extensions of AZFb deletions exists in these human population and that these mutation events are indeed associated with distinct haplogroups of the patients’ Y chromosomes [ 50 ]. In this context it is interesting to note that no differences in Y gene expression rates were found among major Y haplogroups containing different copy numbers of ampliconic Y genes in testis [ 51 ].…”
Section: Azfb Genomic Structure Is Variable In Distinct Y Haplogroupsmentioning
confidence: 99%
“…The use of PCR amplification to screen these STS sites is more appropriate to identify these deletions. 38 , 39 …”
Section: Screening For Ycm In Oligospermic Menmentioning
confidence: 99%