Molecular and cytogenetic studies from infertile men have shown that one or more genes controlling spermatogenesis are located in proximal Yq11.2 in interval 6 of the Y chromosome. Microdeletions within the azoospermia factor region (AZF) are often associated with azoospermia and severe oligospermia in men with idiopathic infertility. We evaluated cells from a normal-appearing 27-year-old man with infertility and initial karyotype of 45,der(X)t(X;Y)(p22.3;p11.2)[8]/46,t(X;Y)(p22.3;p11.2)[12]. By fluorescence in situ hybridization with dual-color whole chromosome paint probes for X and Y chromosomes, we confirmed the Xp-Yp interchange. By primed in situ labeling, we identified translocation of the SRY gene from its original location on Yp to the patient's X chromosome at band Xp22. We also obtained evidence that the apparent marker was a der(Y) (possibly a ring) containing X and Y domains, and observed that the patient's genome was deleted for RBM and DAZ, two candidate genes for AZF.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.10107 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Distinctive pattern of expression of spermatogenic molecular markers in testes of azoospermic men with non-mosaic Klinefelter syndrome.
J Assist Reprod Genet
June 2016
Institute for the Study of Fertility, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, 6 Weizman Street, Tel Aviv, 6423906, Israel.
Purpose: Mature sperm cells can be found in testicular specimens extracted from azoospermic men with non-mosaic Klinefelter syndrome (KS). The present study evaluates the expression of various known molecular markers of spermatogenesis in a population of men with KS and assesses the ability of those markers to predict spermatogenesis.
Methods: Two groups of men with non-obstructive azoospermia who underwent testicular sperm-retrieval procedures were included in the study: 31 had non-mosaic KS (KS group) and 91 had normal karyotype (NK group).
AZF gene expression analysis in peripheral leukocytes and testicular cells from idiopathic infertility.
Arch Androl
May 2008
Department of Urology, First Affiliated Hospital, Nanjing Medical University, Nanjing, China.
The aim of this study was to assess the frequency of AZF microdeletions in peripheral leukocytes and testicular cells in Chinese men with idiopathic infertility. Expression in testicular cells was also determined. In this study, we screened 62 idiopathic infertile patients, in whom karyotype, sperm count and hormonal parameters were evaluated.
View Article and Find Full Text PDFPRINS for mapping single-copy genes.
Methods Mol Biol
September 2006
Department of Pediatrics, University of Tennessee, Memphis, TN, USA.
Primed in situ labeling (PRINS) is a sensitive and specific method that can be used for the localization of single copy genes and sequences too small for detection by conventional fluorescence in situ hybridization. By the use of PRINS, the human SRY gene was localized to Yp11.31-p11.
View Article and Find Full Text PDFIdiopathic cases of male infertility from a region in India show low incidence of Y-chromosome microdeletion.
J Biosci
September 2003
Department of Zoology, Banaras Hindu University, Varanasi 221 005, India.
Chromosomal and Y-chromosomal microdeletion analysis has been done in cases of idiopathic infertility with the objective of evaluating the frequency of chromosomal and molecular anomaly as the causal factor of infertility. Barring a few cases of Klinefelter syndrome (XXY or XY/XXY mosaics), no chromosomal anomaly was encountered. Y-microdeletion was analysed by PCR-screening of STSs from different regions of the AZF (AZFa, AZFb, AZFc) on the long arm of the Y, as well as by using DNA probes of the genes RBM, DAZ (Yq), DAZLA (an autosomal homologue of DAZ) and SRY (Yp; sex determining gene).
View Article and Find Full Text PDFMultiplex sequence-tagged site PCR for efficient screening of microdeletions in Y chromosome in infertile males with azoospermia or severe oligozoospermia.
Arch Androl
October 2002
Department of Urology, School of Medicine, Kanazawa University, Kanazawa, Ishikawa, Japan.
The multiplex STS-PCR method was used to detect microdeletions in the long arm of the Y chromosome (Yq) of cytogenetically normal men. One hundred infertile men with azoospermia or oligozoospermia were screened with the multiplex PCR method using 58 STSs, which are specific to Yq for detecting microdeletions on this chromosome. Correlations between the microdeletions on Yq and phenotypes of spermatogenetic disturbance were also examined.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!