Mierla Dana, Jardan Dumitru, Stoian Veronica
Life Memorial Hospital, Bucharest, Romania ; Department of Genetics, Faculty of Biology, University of Bucharest, Bucharest, Romania.
Life Memorial Hospital, Bucharest, Romania.
Int J Fertil Steril. 2014 Apr;8(1):35-42. Epub 2014 Mar 9.
Chromosomal abnormalities and Y chromosome microdeletions are regarded as two most frequent genetic causes associated with failure of spermatogenesis in the Caucasian population.
To investigate the distribution of genetic defects in the Romanian population with azoospermia or severe oligozoospermia, karyotype analysis by G-banding was carried out in 850 idiopathic infertile men and in 49 fertile men with one or more children. Screening for microdeletions in the azoospermia factor (AZF) region of Y chromosome was performed by multiplex polymerase chain reaction (PCR) on a group of 67 patients with no detectable chromosomal abnormality. The results of the two groups were compared by a two-tailed Fisher's exact test.
In our study chromosomal abnormalities were observed in 12.70% and 8.16% of infertile and fertile individuals respectively.
Our data suggests that infertile men with severe azoospermia have higher incidences of genetic defects than fertile men and also patients from any other group. Infertile men with normal sperm present a higher rate of polymorphic variants. It is important to know whether there is a genetic cause of male infertility before patients are subjected to intracytoplasmic sperm injection (ICSI) or testicular sperm extraction (TESE)/ICSI treatment.
染色体异常和Y染色体微缺失被认为是高加索人群中与精子发生失败相关的两个最常见的遗传原因。
为了研究罗马尼亚无精子症或严重少精子症人群中遗传缺陷的分布情况，对850名特发性不育男性和49名有一个或多个孩子的生育男性进行了G带核型分析。对一组67名未检测到染色体异常的患者进行多重聚合酶链反应（PCR），以筛查Y染色体无精子症因子（AZF）区域的微缺失。两组结果采用双侧Fisher精确检验进行比较。
在我们的研究中，不育个体和生育个体中分别有12.70%和8.16%观察到染色体异常。
我们的数据表明，严重无精子症的不育男性比生育男性以及其他任何群体的患者有更高的遗传缺陷发生率。精子正常的不育男性多态性变异率更高。在患者接受卵胞浆内单精子注射（ICSI）或睾丸精子提取（TESE）/ICSI治疗之前，了解男性不育是否存在遗传原因很重要。
