ArticleJournal of endocrinological investigation2002
A novel approach for the analysis of DAZ gene copy number in severely idiopathic infertile men.
Article in Journal of endocrinological investigation, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 17 citations in OpenAlex.
- Errors in RNA-Seq quantification affect genes of relevance to human disease.Genome biology · 2015Article
- AZFc somatic microdeletions and copy number polymorphism of the DAZ genes in human males exposed to natural background radiation.Human genetics · 2007Article
- A fiber-FISH contig spanning the non-recombining region of the human Y chromosome.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2002Article
- Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary Infertility.Journal of reproduction & infertilityArticle
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4 authors at 1 institution in 1 country.
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Abstract
The deleted-in-azoospermia (DAZ) gene family constitutes the major candidate for the AZFc (azoospermia factor c) phenotype of male infertility, being deleted in about 10% of azoospermic and severely oligozoospermic subjects. Four DAZ genes are arranged in two clusters in AZFc, and standard analysis by PCR cannot distinguish among the different copies. Therefore only deletions of the entire gene cluster can be identified. We developed a PCR amplification-restriction digestion assay able to distinguish from DAZ genes for single nucleotide variants. Then we applied this approach to screen a group of idiopathic infertile men in which the DAZ genes presence was previously assessed by standard PCR analysis. Two patients out of 25 showed deletion of two copies of DAZ (DAZI and 2), suggesting that this mutation was actually the cause of spermatogenic damage. This preliminary screening demonstrates that deletions of copies of DAZ genes may be often found in severely infertile men and it strengthens the role of this gene family in spermatogenesis. Furthermore, this simple method, being able to distinguish among the different DAZ copies, could be used to screen a larger number of patients and to perform a more accurate diagnosis.
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