2007
TSPY gene copy number as a potential new risk factor for male infertility
VODICKA, R., R. VRTEL, Ladislav DUŠEK, A.R. SINGH, K. KRIZOVA et. al.Základní údaje
Originální název
TSPY gene copy number as a potential new risk factor for male infertility
Název česky
TSPY gene copy number as a potential new risk factor for male infertility
Autoři
VODICKA, R. (203 Česká republika), R. VRTEL (203 Česká republika), Ladislav DUŠEK (203 Česká republika, garant), A.R. SINGH (203 Česká republika), K. KRIZOVA (203 Česká republika), V. SVACINOVA (203 Česká republika), V. HORINOVA (203 Česká republika), J. DOSTAL (203 Česká republika), I. OBORNA (203 Česká republika), J. BREZINOVA (203 Česká republika), A. SOBEK (203 Česká republika) a J. SANTAVY (203 Česká republika)
Vydání
Reproductive Biomedicine Online, 2007, 1472-6491
Další údaje
Jazyk
angličtina
Typ výsledku
Článek v odborném periodiku
Obor
30214 Obstetrics and gynaecology
Stát vydavatele
Velká Británie a Severní Irsko
Utajení
není předmětem státního či obchodního tajemství
Impakt faktor
Impact factor: 2.840
Kód RIV
RIV/00216224:14110/07:00040020
Organizační jednotka
Lékařská fakulta
UT WoS
000246445000009
Klíčová slova anglicky
capillary electrophoresis; male infertility; multicopy gene; quantitative fluorescence PCR; TSPY gene; Y chromosome
Štítky
Změněno: 1. 4. 2010 08:44, prof. RNDr. Ladislav Dušek, Ph.D.
V originále
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.
Česky
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.
Návaznosti
| NR8442, projekt VaV |
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