ArticleJournal of medical genetics2007
Partial deletions are associated with an increased risk of complete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility.
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 2 of them syntheses that pooled it.
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Who cites it
43 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Gr/gr deletions on Y-chromosome correlate with male infertility: an original study, meta-analyses, and trial sequential analyses.Scientific reports · 2016Pooled it
- EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013.Andrology · 2014Guideline
- Trial
- Article
- A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region.Frontiers in genetics · 2024Article
- Y-chromosome genes associated with sertoli cell-only syndrome identified by array comparative genome hybridization.Biomedical journal · 2023Article
- Histology and sperm retrieval among men with Y chromosome microdeletions.Translational andrology and urology · 2021Review
- Y-Chromosome Microdeletions: A Review of Prevalence, Screening, and Clinical Considerations.The application of clinical genetics · 2021Review
- Do partial AZFc deletions affect the sperm retrieval rate in non-mosaic Klinefelter patients undergoing microdissection testicular sperm extraction?BMC urology · 2020Article
- Incidence of Y chromosome microdeletions in patients with Klinefelter syndrome.Journal of endocrinological investigation · 2019Article
- High frequencies of Non Allelic Homologous Recombination (NAHR) events at the AZF loci and male infertility risk in Indian men.Scientific reports · 2019Article
- Natural Transmission of b2/b3 Subdeletion or Duplication to Expanded Y Chromosome Microdeletions.Medical science monitor : international medical journal of experimental and clinical research · 2018Article
- Genetics of male infertility.Nature reviews. Urology · 2018Review
- Genetics of the human Y chromosome and its association with male infertility.Reproductive biology and endocrinology : RB&E · 2018Review
- Spermatogenic failure and the Y chromosome.Human genetics · 2017Review
- Y chromosome haplogroups based genome-wide association study pinpoints revelation for interactions on non-obstructive azoospermia.Scientific reports · 2016Article
- Novel Y-chromosomal microdeletions associated with non-obstructive azoospermia uncovered by high throughput sequencing of sequence-tagged sites (STSs).Scientific reports · 2016Article
- Copy number variation and microdeletions of the Y chromosome linked genes and loci across different categories of Indian infertile males.Scientific reports · 2015Article
- Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions.Journal of assisted reproduction and genetics · 2015Article
- Prevalence of Y Chromosome Microdeletions in Idiopathic Azoospermia Cases in Central Indian Men.Journal of clinical and diagnostic research : JCDR · 2015Article
Corrections and comments
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe AZFc region on the human Y chromosome has been found to be functionally important in spermatogenesis. Complete AZFc deletion is one of the most frequent causes of male infertility and the roles of partial AZFc deletions (gr/gr and b2/b3 deletions) in spermatogenesis are controversial.
methodsTo further study the roles of partial AZFc deletions in spermatogenic impairment and the relationship between complete and partial AZFc deletions, these deletions were typed and quantitative analysis of DAZ gene copies and Y chromosome haplogrouping were performed for seven pedigrees of complete AZFc deletion carriers, comprising 296 infertile and 280 healthy Chinese men.
resultsNeither the gr/gr nor the b2/b3 deletion was found to be associated with spermatogenic failure. In one pedigree, a complete AZFc deletion was observed to result from the gr/gr deletion, suggesting that complete deletions of AZFc can be preceded by partial deletions. In addition, a new gr/gr-deleted Y haplogroup Q1 was identified and the reported fixation of the b2/b3 deletion in haplogroup N confirmed. The frequency of complete AZFc deletion in haplogroups Q1 and N was significantly higher than that in the other haplogroupsm with fewer partial deletions. Duplications of DAZ gene copies were also observed in this study.
conclusionsTo date, these observations comprise the first evidence showing that partial AZFc deletions can increase the risk of complete AZFc deletion. The susceptibility of partial AZFc deletions to complete AZFc deletion deserves further examination, especially in the populations or Y haplogroups abundant in partial AZFc deletions.
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