J 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.

Basic information

Original name

TSPY gene copy number as a potential new risk factor for male infertility

Name in Czech

TSPY gene copy number as a potential new risk factor for male infertility

Authors

VODICKA, R. (203 Czech Republic), R. VRTEL (203 Czech Republic), Ladislav DUŠEK (203 Czech Republic, guarantor), A.R. SINGH (203 Czech Republic), K. KRIZOVA (203 Czech Republic), V. SVACINOVA (203 Czech Republic), V. HORINOVA (203 Czech Republic), J. DOSTAL (203 Czech Republic), I. OBORNA (203 Czech Republic), J. BREZINOVA (203 Czech Republic), A. SOBEK (203 Czech Republic) and J. SANTAVY (203 Czech Republic)

Edition

Reproductive Biomedicine Online, 2007, 1472-6491

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30214 Obstetrics and gynaecology

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 2.840

RIV identification code

RIV/00216224:14110/07:00040020

Organization unit

Faculty of Medicine

UT WoS

000246445000009

Keywords in English

capillary electrophoresis; male infertility; multicopy gene; quantitative fluorescence PCR; TSPY gene; Y chromosome
Změněno: 1/4/2010 08:44, prof. RNDr. Ladislav Dušek, Ph.D.

Abstract

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.

In Czech

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.

Links

NR8442, research and development project
Name: Standardizace a individualizace léčby testikulárních germinálních nádorů (příprava centralizace veškeré péče do dvou center v ČR)
Investor: Ministry of Health of the CR