TSPY gene copy number as a potential new risk factor for male infertility
TSPY gene copy number as a potential new risk factor for male infertility
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DOI：
10.1016/s1472-6483(10)61049-8
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发表时间：
2007-05-01
影响因子：
4
通讯作者：
Santavy, Jiri
中科院分区：
文献类型：
--
作者：
Vodicka, Radek;Vrtel, Radek;Santavy, Jiri
人类TSPY（睾丸特异性蛋白，Y连锁）基因家族（30-60个拷贝）位于Y染色体的MSY（男性特异性）区域。睾丸特异性表达表明该基因在精子发生中起作用。应用改良荧光定量PCR（Refined quantitative fluorescence PCR，PCR）技术检测了84例分层不育男性和40例正常对照者的TSPY基因拷贝数，并与AMELY/X（amelogenin gene，Y-linked）基因进行比较。不育男性TSPY基因拷贝数显著高于对照组（P = 0.002）。应用受试者工作特征曲线分析评价TSPY相对拷贝数的诊断鉴别力。TSPY/AMELY被明确地发现在对照样品和不育男性的诊断分离中是强大的，在0.46的截止点处达到良好的特异性（0.642）和灵敏度（0.732）水平。这些发现得到了随机选择的阳性样本和对照的独立重复研究的支持。TSPY拷贝数的评估提供了一个全新的诊断方法，与男性不育的遗传原因。TSPY基因拷贝数对精子发生的影响可能解释精子细胞数量和质量的不连续病理改变。
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.