Substantial Prevalence of Microdeletions of the Y-Chromosome in Infertile Men With Idiopathic Azoospermia and Oligozoospermia Detected Using a Sequence-Tagged Site-Based Mapping Strategy

Najmabadi, Hossein; Huang, Vivian; Yen, Pauline H.; Subbarao, M N; Bhasin, Dimple; Banaag, Liza; Naseeruddin, S; Kretser, David Morritz de; Baker, H.W. Gordon; McLachlan, Robert I; Loveland, K.; Bhasin, Shalender

doi:10.1097/00006254-199609000-00021

Cited by 45 publications

(72 citation statements)

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“…This incidence is similar to that previously reported in studies using other approache s [2,3,12,15,18].…”

Section: Discussionsupporting

confidence: 90%

“…Moreover, a microdeletion was detected in the patients with oligo/azoospermia but with a cytogenetically normal Yq [4]. After a sequence-tagged site (STS)-based mapping strategy had been devised [7,22], a relatively high prevalence of microdeletions in Yq were reported [12,15]. These microdeletions were found chie¯y in the AZFa, AZFb, or AZFc subregions of AZF.…”

mentioning

confidence: 99%

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Multiplex Sequence-Tagged Site PCR for Efficient Screening of Microdeletions in Y Chromosome in Infertile Males with Azoospermia or Severe Oligozoospermia

Nakashima

Koh

Namiki

et al. 2002

Archives of Andrology

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“…This incidence is similar to that previously reported in studies using other approache s [2,3,12,15,18].…”

Section: Discussionsupporting

confidence: 90%

mentioning

confidence: 99%

Multiplex Sequence-Tagged Site PCR for Efficient Screening of Microdeletions in Y Chromosome in Infertile Males with Azoospermia or Severe Oligozoospermia

Nakashima

Koh

Namiki

et al. 2002

Archives of Andrology

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“…The sperm concentration of the 1 infertile man with a microdeletion in category OIII was 1 ϫ 10 6 /ml. and severe oligozoospermia have microdeletions in the Y chromosome (Nagafuchi et al 1993;Kobayashi et al 1994;Reijo et al 1995;Vogt et al 1996;Najmabadi et al 1996;Reijo et al 1996;Stuppia et al 1996;Simoni et al 1997;Kremer et al 1997;Vogt 1998;McElreavey and Krausz 1999). However, it is still not clear which gene or locus in the Y chromosome may be responsible for spermatogenesis.…”

Section: Resultsmentioning

confidence: 99%

“…Many investigators have focused on the AZFb and AZFc regions, because the RBM and DAZ genes were identified on these regions (Ma et al 1993;Reijo et al 1995) and there have been many reports on the relationship between these genes and spermatogenesis. According to these reports, 3%-18% infertile men with azoospermia (Nagafuchi et al 1993;Kobayashi et al 1994;Reijo et al 1995;Vogt et al 1996;Najmabadi et al 1996;Reijo et al 1996;Stuppia et al 1996;Kremer et al 1997;Simoni et al 1997;Vogt 1998;McElreavey and Krausz 1999). Our result (7.6%) was in agreement with these previous reports.…”

Section: Discussionmentioning

confidence: 99%

“…In addition, it was also reported that oligozoospermic men had microdeletions in this region Qureshi et al 1996;Simoni et al 1997). However, few reports have demonstrated correlations between the extent of microdeletions and sperm concentration (Vogt et al 1996;Najmabadi et al 1996;Kremer et al 1997;Simoni et al 1997). Accordingly, in this study, in order to elucidate the relation between Y chromosome deletion and defects of spermatogenesis, including severe and mild oligozoospermia, we analyzed DNAs from azoospermic and oligozoospermic Japanese men, using polymerase chain reaction (PCR) with sequence-tagged site (STS) primers (Vollrath et al 1992).…”

Section: Introductionmentioning

confidence: 94%

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Screening for deletions in interval D16–22 of the Y chromosome in azoospermic and oligozoospermic Japanese men

Katô¹,

Komori

Nakata

et al. 2001

J Hum Genet

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The genetic basis of infertility remains unclear in a majority of infertile men. In this study, the Y chromosome long arm involving the DAZ (deleted in azoospermia) gene was screened in order to evaluate the occurrence of microdeletion in Japanese infertile men. One hundred and fifty-seven infertile Japanese men with azoospermia and oligozoospermia were analyzed for microdeletions in interval D16-22 of the Y chromosome, using polymerase chain reaction with sequence-tagged site markers. Sixteen sets of oligonucleotide primers were synthesized for the polymerase chain reaction, and Southern blot analysis was also performed. The men were divided into five categories on the basis of sperm concentration: functional azoospermia (A; n ϭ 24), azoospermia caused by obstruction (AO; n ϭ 20), oligozoospermia I (OI, sperm concentration less than 1 ϫ 10 5 /ml; n ϭ 33), oligozoospermia II (OII, sperm concentration less than 1 ϫ 10 6 /ml; n ϭ 30), and oligozoospermia III (OIII, sperm concentration less than 1 ϫ 10 7 /ml; n ϭ 50). Thirty fertile men with a sperm concentration of more than 2 ϫ 10 7 /ml were also analyzed as controls. Microdeletions were identified, in 12 (7.6%) of the 157 infertile men, as follows: 1 man in category A, 1 in category AO, 5 in category OI, 4 in category OII, and 1 in category OIII. No deletion was identified in the fertile men. One common region around sY240 was identified in 11 of the infertile men with microdeletions. This locus may contain specific genes for spermatogenesis. The sperm concentration in the ten oligozoospermic men with microdeletions was below 1 ϫ 10 6 /ml. There were no correlations between the severity of spermatogenic defects and the extent of the microdeletions. These results suggested that genes in the interval D16-22 of the Y chromosome might have important roles in spermatogenesis.

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Genetic concerns for the subfertile male in the era of ICSI

et al. 1998

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The treatment of severe male factor infertility has seen remarkable advances in the last five years with the introduction and widespread use of intracytoplasmic sperm injection (ICSI). Although ICSI represents one of the most important advances in the treatment of the subfertile male, significant concerns exist regarding the potential for transmission of abnormal genes to the offspring because many of the natural barriers to conception have been bypassed. Because these couples were not able to conceive prior to ICSI, the long‐term genetic consequences in these offspring are largely undefined at this time. Genetic abnormalities related to male infertility need to be considered in terms of being (1) causative for male infertility and (2) potentially transmissible to the offspring. Reasons for pursuing a genetic evaluation include (1) establishing a diagnosis, (2) establishing a possible genetic origin, (3) clarifying the pattern of inheritance, and (4) providing information on natural history, variation and expression. The three most common known genetic factors related to male infertility are cystic fibrosis gene mutations leading to congenital absence of the vas deferens, Y‐chromosome microdeletions leading to spermatogenic impairment, and karyotype abnormalities. When congenital bilateral absence of the vas deferens with azoospermia is encountered, cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations are commonly the underlying cause. When testicular failure is manifest by azoospermia or severe oligoszoospermia, Y‐chromosome microdeletions may be present in approximately 10–15 per cent of otherwise normal appearing men. Karyotyping can uncover potentially transmissible genetic abnormalities in the infertile male including structural chromosomal disorders such as Klinefelter's (classic 47, XXY), mixed gonadal dysgenesis, chromosomal translocations and XYY syndromes. Finally, potential male infertility genes in animal models are reviewed. Without question, advances in clinical and basic research raise scientific and social issues that must be addressed. Copyright © 1998 John Wiley & Sons, Ltd.

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Substantial Prevalence of Microdeletions of the Y-Chromosome in Infertile Men With Idiopathic Azoospermia and Oligozoospermia Detected Using a Sequence-Tagged Site-Based Mapping Strategy

Cited by 45 publications

References 0 publications

Multiplex Sequence-Tagged Site PCR for Efficient Screening of Microdeletions in Y Chromosome in Infertile Males with Azoospermia or Severe Oligozoospermia

Multiplex Sequence-Tagged Site PCR for Efficient Screening of Microdeletions in Y Chromosome in Infertile Males with Azoospermia or Severe Oligozoospermia

Screening for deletions in interval D16–22 of the Y chromosome in azoospermic and oligozoospermic Japanese men

Genetic concerns for the subfertile male in the era of ICSI

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