Behulova Regina, Varga Ivan, Strhakova Lubica, Bozikova Alexandra, Gabrikova Dana, Boronova Iveta, Repiska Vanda
Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University, Bratislava, Slovakia.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2011 Mar;155(1):33-8. doi: 10.5507/bp.2011.006.
The Y chromosome accumulates male-related genes including sex-determining region of Y-chromosome (SRY) and several spermatogenesis-related genes. The long arm contains azoospermia factor (AZF) region (including sub-regions AZFa, AZFb and AZFc). Microdeletions in this region are responsible for azoospermia and oligospermia and result in the male infertility. The aim of this study was to analyze incidence of microdeletions in the AZF region of Y chromosome in patients with azoospermia from Slovakia.
Over the period from 2005 to 2009 a total of 239 men (mean age 31.74 years) were analyzed. The diagnosis of azoospermia was established on the basis of semen analysis. All patient samples were analyzed cytogenetically. Chromosomal analysis was performed on all patients on cultured lymphocytes from peripheral blood. For exact diagnosis of microdeletions in AZF region we used a PCR-method using a set of sequence-tagged sites from all AZF sub-regions (according to the recommendation by the European Academy of Andrology and the European Quality Monitoring Network Group).
Among our 226 patients with azoospermia and with normal karyotype, 8 patients (mean age 30.6 years) had microdeletions in the AZF region of the Y chromosome (3.35%). Considering particular types of deletions we determined deletions in each region AZFa,b,c but also a complete deletion of the entire AZF region. The presence of microdeletion(s) in the AZFc region was the most frequent. In our study we found 12 patients (5%) with 47,XXY karyotype (Klinefelter syndrome), but these patients didn't have microdeletion of Y chromosomes.
The study confirmed that percentage of microdeletions in the AZF region is low in Slovak azoospermic patients, but important from a prognostic view.
Y染色体积累了与男性相关的基因，包括Y染色体性别决定区（SRY）和几个与精子发生相关的基因。其长臂包含无精子症因子（AZF）区域（包括亚区域AZFa、AZFb和AZFc）。该区域的微缺失会导致无精子症和少精子症，并导致男性不育。本研究的目的是分析斯洛伐克无精子症患者Y染色体AZF区域微缺失的发生率。
在2005年至2009年期间，共分析了239名男性（平均年龄31.74岁）。无精子症的诊断基于精液分析。对所有患者样本进行了细胞遗传学分析。对所有患者的外周血培养淋巴细胞进行了染色体分析。为了准确诊断AZF区域的微缺失，我们使用了一种聚合酶链反应（PCR）方法，该方法使用了来自所有AZF亚区域的一组序列标签位点（根据欧洲男科学会和欧洲质量监测网络组的建议）。
在我们的226名无精子症且核型正常的患者中，8名患者（平均年龄30.6岁）在Y染色体的AZF区域存在微缺失（3.35%）。考虑到特定类型的缺失，我们在每个AZFa、b、c区域都发现了缺失，甚至整个AZF区域的完全缺失。AZFc区域存在微缺失最为常见。在我们的研究中，我们发现12名患者（5%）核型为47,XXY（克兰费尔特综合征），但这些患者没有Y染色体微缺失。
该研究证实，斯洛伐克无精子症患者中AZF区域微缺失的百分比很低，但从预后角度来看很重要。
