Prevalence of Y microdeletions in azoospermic and severe oligozoospermic men in Southern Italy: Application of a rapid capillary electrophoresis method

Fattoruso, Olimpia; Zarrilli, S.; Coto, I.; Rosa, Michele De; Lombardi, Gaetano; Sacchetti, L

doi:10.1007/bf03346456

Cited by 5 publications

(3 citation statements)

References 19 publications

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“…Approximately 5-10% of oligospermic cases and 15-20% of azoospermic cases harbor genetic abnormalities (Dada et al, 2006). Fattoruso et al (2009) reported the frequency of Y chromosome microdeletions as 9% (12.7% in azoospermic and 4.5% in severe oligozoospermic patients). Balkan et al (2008) detected an Yq microdeletion in 1 (1.9%) of 52 azoospermic cases, which has been supported by others (Qureshi et al, 1996;Sargin et al, 2004).…”

Section: Discussionmentioning

confidence: 99%

Detection of Y chromosome microdeletions and mitochondrial DNA mutations in male infertility patients

Güney¹,

Javadova²,

Kıraç³

et al. 2012

Genet. Mol. Res.

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ABSTRACT. Infertility affects about 10-15% of all couples attempting pregnancy with infertility attributed to the male partner in approximately half of the cases. Proposed causes of male infertility include sperm motility disturbances, Y chromosome microdeletions, chromosomal abnormalities, single gene mutations, and sperm mitochondrial DNA (mtDNA) rearrangements. To investigate the etiology of decreased sperm fertility and motility of sperm and to develop an appropriate therapeutic strategy, the molecular basis of these defects must be elucidated. In this study, we aimed to reveal the relationships between the genetic factors including sperm mtDNA mutations, Y chromosome microdeletions, and sperm parameters that can be regarded as candidate factors for male infertility. Thirty men with a history of infertility and 30 fertile men were recruited to the study. Y chromosome microdeletions were analyzed by multiplex PCR. Mitochondrial genes ATPase6, Cytb, and ND1, were amplified by PCR and then analyzed by direct sequencing. No Y chromosome microdeletions were detected in either group. However, a total of 38 different nucleotide substitutions were identified in the examined mitochondrial genes in both groups, all of which are statistically non-significant. Fifteen substitutions caused an amino acid change and 12 were considered novel mutations. As a conclusion, mtDNA mutations and Y chromosome microdeletions in male infertility should be examined in larger numbers in order to clarify the effect of genetic factors.

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Section: Discussionmentioning

confidence: 99%

Detection of Y chromosome microdeletions and mitochondrial DNA mutations in male infertility patients

Güney¹,

Javadova²,

Kıraç³

et al. 2012

Genet. Mol. Res.

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“…The standard procedure is based on PCR amplification of AZF specific STS primers and control markers. Although alternative methods have been proposed (19), the use of the method described in the guidelines is highly advised for its high specificity and sensibility (detection of clinically relevant deletions is close to 100%). It is worth noting that the MSY sequence and the mechanism underlying microdeletions have definitely established that a fourth AZFd region postulated by KentFirst et al (20) and considered in a popular commercial kit does not exist.…”

Section: Clinical Correlations Of Azf Deletionsmentioning

confidence: 99%

The Y chromosome-linked copy number variations and male fertility

Krausz

Chianese

Giachini

et al. 2011

J Endocrinol Invest

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“…However, electrophoretic separation of the multiplex PCR products is labor-intensive only affording low resolution and sensitivity [Bor et al 2003]. To overcome those issues, other technologies like real-time PCR with melt curve analysis, PCR with capillary electrophoresis and microarray technology have been used to screen for AZF deletions [Buch et al 2003;Fattoruso et al 2009;Zhu et al 2008].…”

Section: Introductionmentioning

confidence: 99%

Analysis of partial AZFc deletions in Malaysian infertile male subjects

Almeamar

Ramachandran²,

Ismail

et al. 2012

Systems Biology in Reproductive Medicine

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Complete deletions in the AZF (a, b, and c) sub-regions of the Y-chromosome have been shown to contribute to unexplained male infertility. However, the role of partial AZFc deletions in male infertility remains to be verified. Three types of partial AZFc deletions have been identified. They are gr/gr, b1/b3, and b2/b3 deletions. A recent meta-analysis showed that ethnic and geographical factors might contribute to the association of partial AZFc deletions with male infertility. This study analyzed the association of partial AZFc deletions in Malaysian infertile males. Fifty two oligozoospermic infertile males and 63 fertile controls were recruited to this study. Screening for partial AZFc deletions was done using the two sequence-tagged sites approach (SY1291 and SY1191) which were analyzed using both the conventional PCR gel-electrophoresis and the high resolution melt, HRM method. Gr/gr deletions were found in 11.53% of the cases and 9.52% of the controls ( p = 0.725). A B2/b3 deletion was found in one of the cases ( p = 0.269). No B1/b3 deletions were identified in this study. The results of HRM analysis were consistent with those obtained using the conventional PCR gel-electrophoresis method. The HRM analysis was highly repeatable (95% limit of agreement was -0.0879 to 0.0871 for SY1191 melting temperature readings). In conclusion, our study showed that partial AZFc deletions were not associated with male infertility in Malaysian subjects. HRM analysis was a reliable, repeatable, fast, cost-effective, and semi-automated method which can be used for screening of partial AZFc deletions.

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Prevalence of Y microdeletions in azoospermic and severe oligozoospermic men in Southern Italy: Application of a rapid capillary electrophoresis method

Cited by 5 publications

References 19 publications

Detection of Y chromosome microdeletions and mitochondrial DNA mutations in male infertility patients

Detection of Y chromosome microdeletions and mitochondrial DNA mutations in male infertility patients

The Y chromosome-linked copy number variations and male fertility

Analysis of partial AZFc deletions in Malaysian infertile male subjects

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