Okutman-Emonts O, Pehlivan S, Tavmergen E, Tavmergen-Goker E N, Ozkinay F
Ege University, Faculty of Science, Department of Biology, Izmir, Turkey.
Genet Couns. 2004;15(2):199-205.
Screening of Y chromosome microdeletion which contains AZF regions in 71 turkish azoospermic men: In 71 Turkish men Y chromosome microdeletions have been studied before intracytoplasmic sperm injection (ICSI). DNA samples were amplified with 18 STS primers of the azoospermia factor (AZF) region on the Y chromosome by using multiplex polymerase chain reaction (PCR). Microdeletions were detected in 4 azoospermic men (5.6 %); one with a deletion in the AZFb region, while the 3 others had a large deletion extending over multiple chromosomal regions (AZFb+c+d and AZFa+b+c+d). In the patients with microdeletion, no spermatogenetic activity could be detected in testis biopsies. This result confirms the idea that Y chromosome microdeletion analysis is important in investigating the possibility of finding sperm in testicular sperm extraction (TESE). Therefore, we point out the importance of genetic testing and counselling regarding Y chromosome microdeletion for couples requesting ICSI.
对71名土耳其无精子症男性进行含无精子症因子(AZF)区域的Y染色体微缺失检测:在71名土耳其男性进行卵胞浆内单精子注射(ICSI)前,对其Y染色体微缺失情况进行了研究。使用多重聚合酶链反应(PCR),用18个Y染色体上无精子症因子(AZF)区域的序列标签位点(STS)引物对DNA样本进行扩增。在4名无精子症男性中检测到微缺失(5.6%);1名男性的AZFb区域存在缺失,而另外3名男性有延伸至多个染色体区域的大片段缺失(AZFb+c+d和AZFa+b+c+d)。在微缺失患者的睾丸活检中未检测到生精活性。这一结果证实了Y染色体微缺失分析对于研究睾丸精子提取(TESE)中找到精子可能性的重要性。因此,我们指出对于要求进行ICSI的夫妇,Y染色体微缺失基因检测和咨询的重要性。