| VODICKA, R., R. VRTEL, Ladislav DUŠEK, A.R. SINGH, K. KRIZOVA, V. SVACINOVA, V. HORINOVA, J. DOSTAL, I. OBORNA, J. BREZINOVA, A. SOBEK and J. SANTAVY. TSPY gene copy number as a potential new risk factor for male infertility. Reproductive Biomedicine Online. 2007, vol. 14, No 5, p. 579-587, 8 pp. ISSN 1472-6491. |
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@article{753530,
author = {Vodicka, R. and Vrtel, R. and Dušek, Ladislav and Singh, A.R. and Krizova, K. and Svacinova, V. and Horinova, V. and Dostal, J. and Oborna, I. and Brezinova, J. and Sobek, A. and Santavy, J.},
article_number = {5},
keywords = {capillary electrophoresis; male infertility; multicopy gene; quantitative fluorescence PCR; TSPY gene; Y chromosome},
language = {eng},
issn = {1472-6491},
journal = {Reproductive Biomedicine Online},
title = {TSPY gene copy number as a potential new risk factor for male infertility},
volume = {14},
year = {2007}
}
TY - JOUR
ID - 753530
AU - Vodicka, R. - Vrtel, R. - Dušek, Ladislav - Singh, A.R. - Krizova, K. - Svacinova, V. - Horinova, V. - Dostal, J. - Oborna, I. - Brezinova, J. - Sobek, A. - Santavy, J.
PY - 2007
TI - TSPY gene copy number as a potential new risk factor for male infertility
JF - Reproductive Biomedicine Online
VL - 14
IS - 5
SP - 579-587
EP - 579-587
SN - 14726491
KW - capillary electrophoresis
KW - male infertility
KW - multicopy gene
KW - quantitative fluorescence PCR
KW - TSPY gene
KW - Y chromosome
N2 - The human TSPY (testis-specific protein, Y-linked) gene family (30-60 copies) is situated in the MSY (male-specific) region of the Y chromosome. Testis-specific expression indicates that the gene plays a role in spermatogenesis. Refined quantitative fluorescence PCR (polymerase chain reaction) was applied to evaluate the relative number of TSPY copies compared with AMELY/X (amelogenin gene, Y-linked) genes in 84 stratified infertile men and in 40 controls. A significantly higher number of TSPY copies was found in infertile men compared with the controls (P = 0.002). The diagnostic discrimination potential of the relative number of TSPY copies was evaluated by receiver operating characteristic curve analysis. TSPY/AMELY was unambiguously found to be powerful in the diagnostic separation of both the control samples and the infertile men, reaching a good level of specificity (0.642) and sensitivity (0.732) at a cut-off point of 0.46. The findings were supported by independently repeated studies of randomly selected positive samples and controls. Evaluation of the TSPY copy number offers a completely new diagnostic approach in relation to the genetic cause of male infertility. The possible effect of the copy number of TSPY genes on spermatogenesis may explain indiscrete pathological alterations of spermatid quality and quantity.
ER -
VODICKA, R., R. VRTEL, Ladislav DUŠEK, A.R. SINGH, K. KRIZOVA, V. SVACINOVA, V. HORINOVA, J. DOSTAL, I. OBORNA, J. BREZINOVA, A. SOBEK and J. SANTAVY. TSPY gene copy number as a potential new risk factor for male infertility. \textit{Reproductive Biomedicine Online}. 2007, vol.~14, No~5, p.~579-587, 8 pp. ISSN~1472-6491.
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