Bunyan David J, Callaway Jonathan L A, Laddach Nadja
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, England.
J Reprod Infertil. 2012 Jul;13(3):174-8.
In recent studies, partial deletions of the azoospermia factor c region (AZFc) on the Y-chromosome have been detected in males with infertility problems. However, there has been a lot of debate about their significance. In order to study such deletions, a simple but accurate method for their detection was applied in this study.
We present data obtained from the Multiplex Ligation-dependent Probe Amplification (MLPA) assay using a new Y-chromosome-specific MLPA probemix (P360) which allows the easy detection of partial AZFc deletions.
Partial AZFc deletions were detected in 8% of our cohort of previously mutation-negative infertile males (and 0% of the fertile control cohort).
These results provide further evidence of the causality of partial AZFc deletions. None of the partial AZFc deletions were detectable by the standard multiplex PCR method, demonstrating the advantage of the MLPA method.
在最近的研究中，已在患有不育问题的男性中检测到Y染色体上无精子症因子c区域（AZFc）的部分缺失。然而，关于它们的意义存在很多争议。为了研究此类缺失，本研究应用了一种简单而准确的检测方法。
我们展示了使用一种新的Y染色体特异性多重连接依赖探针扩增（MLPA）检测试剂盒（P360）通过MLPA检测获得的数据，该试剂盒可轻松检测AZFc部分缺失。
在我们之前检测为突变阴性的不育男性队列中，8%检测到AZFc部分缺失（而在生育力正常的对照队列中为0%）。
这些结果为AZFc部分缺失的因果关系提供了进一步证据。标准多重PCR方法无法检测到任何AZFc部分缺失，证明了MLPA方法的优势。
