Y-chromosomal microdeletions and partial deletions of the Azoospermia Factor c (AZFc) region in normozoospermic, severe oligozoospermic and azoospermic men in Sri Lanka

Fernando, Luis; Gromoll, Jörg; Weerasooriya, TR; Nieschlag, Eberhard; Simoni, Manuela

doi:10.1111/j.1745-7262.2006.00100.x

Cited by 46 publications

(35 citation statements)

References 20 publications

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“…The frequency of the gr/gr deletions in infertile Caucasian males has been reported to be in the range of 3.2% to 5% [Giachini et al 2008;Navarro-Costa et al 2007;Stouffs et al 2008]. The findings of this study are also in agreement with that of others de Carvalho et al 2006;Fernando et al 2006;Hucklenbroich et al 2005;Imken et al 2007;Lardone et al 2007;Lin et al 2007;Lu et al 2009;Ravel et al 2009;Stouffs et al 2008;Wu et al 2007;Zhang et al 2007] that showed no association of gr/gr deletions in infertile males. However, the results of this study differ from the findings of Repping et al [2003] and de Llanos et al [2005] which showed an association of gr/gr deletions in male infertility (P value of < 0.014 and 0.002, respectively).…”

Section: Discussionsupporting

confidence: 92%

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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Section: Discussionsupporting

confidence: 92%

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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“…2,6,33,34 In this study, we found an increased prevalence of AZFc partial deletions (11.87%) in infertile men compared with normozoospermic fertile men, suggesting that such mutations represent a risk factor for male infertility. Among these partial AZFc deletions, there were 30 cases with gr/gr subtype, 16 with b1/b3 and 6 with b2/b3.…”

Section: Discussionmentioning

confidence: 72%

“…36 However, other studies have reported very low frequencies of these subdeletions and found no association with infertility and/or spermatogenesis. 14,16,19,27,34,37 Either genetic background of the population studied or the type of infertility might explain the reasons in the frequencies of the different subdeletions.…”

Section: Discussionmentioning

confidence: 99%

Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients

et al. 2010

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Microdeletions in azoospermia factor (AZF) region on distal Yq are associated with male infertility and spermatogenic failure due to intra-chromosomal homologous recombination between large nearly identical repeat amplicons and are found in B10% of azoospermic and severe oligozoospermic cases. Although AZFc is deleted in azoospermia or oligozoospermia, no definitive conclusion has been drawn for the role of partial AZFc deletions to spermatogenic failure. Therefore, this study is planned to investigate the role of gr/gr subdeletions in individuals with spermatogenic failure and to find its relationship with Y chromosome haplogroups (HGs) in infertile men from Indian population. It is a case-control study involving 236 azoospermic, 182 oligospermic and 240 healthy normozoospermic men. We found 18 gr/gr, 11 b1/b3 and 2 b2/b3 subdeletions in azoospermic patients and 12 gr/gr, 5 b1/b3 and 4 b2/b3 subdeletions in oligospermic patients. However, we also found seven gr/gr deletions in normozoospermic men. Seven patients each with spermatogenic arrest and oligospermia who carry gr/gr subdeletions have deleted DAZ3/DAZ4 genes. A total of 11 patients with sertoli cell-only syndrome (SCOS) and 5 oligospermic patients with gr/gr subdeletions also have DAZ1/DAZ2 genes deleted indicating that deletions of DAZ genes contributed differently to damage to spermatogenic process. L1 HG is found in patients showing b1/b3 subdeletions, whereas HG H1a2 and H1b were found in normozoospermic individuals with gr/gr subdeletions. Our results provide evidence of association between the occurrence of subdeletions and male infertility as well as the severity of the spermatogenic failure.

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“…An association between AZFc subdeletions and severe spermatogenic failure (SSF) was observed in several populations, including Australian, European, Han-Chinese, Moroccan, and North Indian populations (Navarro-Costa et al, 2007;Lu et al, 2009;Shahid et al, 2011;Bunyan et al, 2012;Eloualid et al, 2012). However, screening studies in several other populations contradict these findings (Machev et al, 2004;Hucklenbroich et al, 2005;Fernando et al, 2006). Furthermore, the estimated frequency of AZFc subdeletions reported in various population studies is not consistent with each other.…”

Section: Introductionmentioning

confidence: 86%

Screening for AZFc Partial Deletions in Dravidian Men with Nonobstructive Azoospermia and Oligozoospermia

Vijesh¹,

Nambiar²,

Mohammed³

et al. 2015

Genetic Testing and Molecular Biomarkers

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Context: Dravidians are the predominant population residing in South India with a diverse genetic structure. Considering various genetic discoveries taking place today, it is evident that deletions in the AZFc region are the most common cause of severe spermatogenic failure (SSF) in various populations studied. However, it is significant to note that there is a paucity of scientific literature on AZFc subdeletion screening among the Dravidian population. Objective: To investigate the prevalence and association of AZFc subdeletion patterns among Dravidian men with nonobstructive azoospermia (NOA) and oligozoospermia. Methods: A population of 354 subjects, including 120 patients with NOA, 109 with oligozoospermia, and 125 normal male controls, were screened using locus-specific sequence tag site markers. Results: We found 21 (9.17%) patients with classical AZF deletion, while no deletions were observed in controls. After excluding the samples with AZF deletions, the remaining 208 infertile and 125 control samples were screened for partial AZFc deletions using a standardized multiplex polymerase chain reaction and on analysis revealed that 13 (6.25%) of the infertile samples possessed gr/gr subdeletions and 15 (7.21%) of the infertile samples possessed b2/b3 subdeletions. Six (4.8%) of the normal samples were found to carry gr/gr subdeletions and two (1.6%) had b2/b3 deletions. The b1/b3 deletion was not observed in any of the patient and control samples screened. Conclusion: Our finding shows that there is a strong association between b2/b3 subdeletion and SSF in the Dravidian population (odds ratio, 4.78; 95% confidence interval 1.07-21.26) ( p = 0.018). Further studies, including gene copy typing for DAZ and CDY genes and a comprehensive haplogrouping analysis, are recommended in a large and wellselected patient group to elude the genetic mechanism behind this association.

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Y-chromosomal microdeletions and partial deletions of the Azoospermia Factor c (AZFc) region in normozoospermic, severe oligozoospermic and azoospermic men in Sri Lanka

Abstract: These results suggest that the frequency and pattern of microdeletions of the Y chromosome in Sri Lankan men are similar to those found in other populations and confirm that gr/gr deletions are not sufficient to cause spermatogenetic failure.

Cited by 46 publications

References 20 publications

Analysis of partial AZFc deletions in Malaysian infertile male subjects

Analysis of partial AZFc deletions in Malaysian infertile male subjects

Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients

Screening for AZFc Partial Deletions in Dravidian Men with Nonobstructive Azoospermia and Oligozoospermia

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