Genetic screening for AZF Y chromosome microdeletions in Jordanian azoospermic infertile men.

International journal of molecular epidemiology and genetics Pub Date : 2014-02-17 eCollection Date: 2014-01-01
Omar F Khabour, Abdulfattah S Fararjeh, Almuthana A Alfaouri
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Abstract

The azoospermia factor (AZF) region of the human Y chromosome contains essential genes for spermatogenesis. Microdeletions in AZF region has been shown to cause male infertility. The aim of this investigation was to determine the frequency of AZF microdeletions in Jordanian infertile males. A sample of 100 infertile males (36 with azoospermia and 64 with oligozoospermia) was screened for microdeletions using 16 AZF markers and polymerase chain reaction (PCR) technique. Two subjects were found to have microdeletions in AZFc region and one subject has microdeletion that includes AZFb and part of AZFc and AZFa. The three deletions were found in azoospermic subjects (8.3%). No microdeletions were found in oligozoospermic group. The frequency of AZF microdeletions in Jordanian azoospermic infertile males is comparable to that observed in other populations (1%-15%). The results suggest the importance of AZF microdeletion analysis for genetic counseling prior to providing assisted reproduction technique.

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约旦无精子不育男性AZF Y染色体微缺失的遗传筛查。
人类Y染色体的无精子症因子(AZF)区域包含精子发生的必要基因。AZF区域的微缺失已被证明会导致男性不育。本研究的目的是确定约旦不育男性AZF微缺失的频率。采用16个AZF标记和聚合酶链反应(PCR)技术对100例不育雄性(无精子症36例,少精子症64例)进行微缺失筛选。2名受试者发现AZFc区域存在微缺失,1名受试者存在AZFb以及部分AZFc和AZFa的微缺失。这3个缺失在无精子受试者中发现(8.3%)。少精子组未发现微缺失。约旦无精子不育男性中AZF微缺失的频率与在其他人群中观察到的频率相当(1%-15%)。结果表明,在提供辅助生殖技术之前,AZF微缺失分析对于遗传咨询的重要性。
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