Microarray detection of Y chromosome deletions associated with male infertility

Osborne, E; Lynch, Michael; McLachlan, Robert I; Trounson, Alan; Cram, David S.

doi:10.1016/s1472-6483(10)60534-2

Cited by 30 publications

(18 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…There is one publication comparing MLPA‐based Y deletion detection with other methods, but unfortunately only the abstract is available in English (Jiang et al ., ). Finally, microarray technology has also been proposed as an alternative assay, but it does not seem to be very cost‐effective and includes many more markers than necessary (Osborne et al ., ).…”

Section: Alternative Methods For Y Microdeletion Testingmentioning

confidence: 97%

“…Alternative methods partially based on the guidelines protocols have been developed using capillary electrophoresis, real‐time PCR, MLPA and array‐CGH (Osborne et al ., ; Kozina et al ., ; Guo et al ., ; Jiang et al ., ; Segat et al ., ) Using the EAA/EMQN multiplexes, but adding a fluorescent label to the primers, allows detection with capillary electrophoresis. Some laboratories have adapted the proposed protocol accordingly, and validated this in house (LH, personal communication).…”

Section: Alternative Methods For Y Microdeletion Testingmentioning

confidence: 99%

See 1 more Smart Citation

EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state‐of‐the‐art 2013

et al. 2013

View full text Add to dashboard Cite

The molecular diagnosis of Y-chromosomal microdeletions is a common routine genetic test which is part of the diagnostic workup of azoospermic and severe oligozoospermic men. Since 1999, the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN) have been actively involved in supporting the improvement of the quality of the diagnostic assays by publication of the laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions and by offering external quality assessment trials. The present revision of the 2004 laboratory guidelines summarizes all the clinical novelties related to the Y chromosome (classic, partial and gene-specific deletions, genotype–phenotype correlations, methodological issues) and provides an update on the results of the quality control programme. These aspects also reflect the consensus of a large group of specialists present at a round table session during the recent Florence-Utah-Symposium on ‘Genetics of male infertility’ (Florence, 19–21 September, 2013). During the last 10 years the gr/gr deletion has been demonstrated as a significant risk factor for impaired sperm production. However, the screening for this deletion type in the routine diagnostic setting is still a debated issue among experts. The original basic protocol based on two multiplex polymerase chain reactions remains fully valid and appropriate for accurate diagnosis of complete AZF deletions and it requires only a minor modification in populations with a specific Y chromosome background. However, in light of novel data on genotype–phenotype correlations, the extension analysis for the AZFa and AZFb deletions is now routinely recommended. Novel methods and kits with excessively high number of markers do not improve the sensitivity of the test, may even complicate the interpretation of the results and are not recommended. Annual participation in an external quality control programme is strongly encouraged. The 12-year experience with the EMQN/EAA scheme has shown a steep decline in diagnostic (genotyping) error rate and a simultaneous improvement on reporting practice.

show abstract

Section: Alternative Methods For Y Microdeletion Testingmentioning

confidence: 97%

Section: Alternative Methods For Y Microdeletion Testingmentioning

confidence: 99%

EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state‐of‐the‐art 2013

et al. 2013

View full text Add to dashboard Cite

show abstract

“…Indeed, despite recent developments on microarray-based diagnostic platforms (Osborne et al ., 2007), the PCR amplification of a genomic marker initially identified in the reference AZFc sequence remains the most reliable and cost-effective genetic test for gr/gr deletions (Repping et al ., 2003b). This sequence belongs to haplogroup R, a predominant lineage in European populations (Brion et al ., 2005).…”

Section: Genetic and Phenotypical Aspects Of Partial Azfc Deletionsmentioning

confidence: 99%

The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility

Navarro‐Costa

Gonçalves

Plancha

2010

Human Reproduction Update

133

134

View full text Add to dashboard Cite

BACKGROUNDThe three azoospermia factor (AZF) regions of the Y chromosome represent genomic niches for spermatogenesis genes. Yet, the most distal region, AZFc, is a major generator of large-scale variation in the human genome. Determining to what extent this variability affects spermatogenesis is a highly contentious topic in human reproduction.METHODSIn this review, an extensive characterization of the molecular mechanisms responsible for AZFc genotypical variation is undertaken. Such data are complemented with the assessment of the clinical consequences for male fertility imputable to the different AZFc variants. For this, a critical re-evaluation of 23 association studies was performed in order to extract unifying conclusions by curtailing methodological heterogeneities.RESULTSIntrachromosomal homologous recombination mechanisms, either crossover or non-crossover based, are the main drivers for AZFc genetic diversity. In particular, rearrangements affecting gene dosage are the most likely to introduce phenotypical disruptions in the spermatogenic profile. In the specific cases of partial AZFc deletions, both the actual existence and the severity of the spermatogenic defect are dependent on the evolutionary background of the Y chromosome.CONCLUSIONSAZFc is one of the most genetically dynamic regions in the human genome. This property may serve as counter against the genetic degeneracy associated with the lack of a meiotic partner. However, such strategy comes at a price: some rearrangements represent a risk factor or a de-facto causative agent of spermatogenic disruption. Interestingly, this precarious balance is modulated, among other yet unknown factors, by the evolutionary history of the Y chromosome.

show abstract

“…Array CGH systems can provide highly reliable and accurate diagnoses by the direct use of a gDNA target that can be easily prepared from the peripheral blood of infertile men. A recent study demonstrated that array-CGH may be an alternative to multiplex PCR 19.9 ± 11.7 5.5 ± 3.5 b0.05 for the diagnosis of known Yq deletions and may be useful in identifying previously unknown Y chromosome deletions/polymorphisms associated with defective spermatogenesis (Osborne et al, 2007). The microarray platform used in that study, however, included only probes encompassing regions on chromosome 13, 14, 21, X and Y.…”

Section: Discussionmentioning

confidence: 99%

Genome-wide screening of severe male factor infertile patients using BAC-array comparative genomic hybridization (CGH)

Song¹,

Shim²,

Bang³

et al. 2012

Gene

View full text Add to dashboard Cite

Microarray detection of Y chromosome deletions associated with male infertility

Cited by 30 publications

References 27 publications

EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state‐of‐the‐art 2013

EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state‐of‐the‐art 2013

The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility

Genome-wide screening of severe male factor infertile patients using BAC-array comparative genomic hybridization (CGH)

Contact Info

Product

Resources

About