ArticleJournal of human genetics2015
Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification.
Article in Journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Optimization of Multiplex-PCR Technique To Determine Azf Deletions in infertility Male Patients.International journal of general medicine · 2024Article
- Detection of AZFc gene deletion in a cohort of Egyptian patients with idiopathic male infertility.Journal, genetic engineering & biotechnology · 2023Article
- Repetitive DNA Sequences in the Human Y Chromosome and Male Infertility.Frontiers in cell and developmental biology · 2022Review
- Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification.Journal of human genetics · 2021Article
- Copy-number analysis of Y-linked loci in young men with non-obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y.Reproductive medicine and biology · 2020Article
- Identifying Novel Copy Number Variants in Azoospermia Factor Regions and Evaluating Their Effects on Spermatogenic Impairment.Frontiers in genetics · 2019Article
- Y chromosome microdeletions frequency in idiopathic azoospermia, oligoasthenozoospermia, and oligospermia.International journal of reproductive biomedicine · 2017Article
- Human Y chromosome copy number variation in the next generation sequencing era and beyond.Human genetics · 2017Review
- Compound heterozygousReproductive medicine and biologyArticle
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although copy-number variations (CNVs) in Y-chromosomal azoospermia factor (AZF) regions have been associated with the risk of spermatogenic failure (SF), the precise frequency, genomic basis and clinical consequences of these CNVs remain unclear. Here we performed multiplex ligation-dependent probe amplification (MLPA) analysis of 56 Japanese SF patients and 65 control individuals. We compared the results of MLPA with those of conventional sequence-tagged site PCR analyses. Eleven simple and complex CNVs, including three hitherto unreported variations, were identified by MLPA. Seven of the 11 CNVs were undetectable by conventional analyses. CNVs were widely distributed in AZF regions and shared by ~60% of the patients and ~40% of the controls. Most breakpoints resided within locus-specific repeats. The majority of CNVs, including the most common gr/gr deletion, were identified in the patient and control groups at similar frequencies, whereas simple duplications were observed exclusively in the patient group. The results imply that AZF-linked CNVs are more frequent and heterogeneous than previously reported. Non-allelic homologous recombination likely underlies these CNVs. Our data confirm the functional neutrality of the gr/gr deletion in the Japanese population. We also found a possible association between AZF-linked simple duplications and SF, which needs to be evaluated in future studies.
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