The Azoospermia Factor c (AZFc) region on the Y chromosome long arm is one of the least stable regions in the human genome. It consists almost entirely of very long repeats and is prone to rearrangement. Numerous structures at AZFc have been identified, and some of them have been reported to be associated with male infertility. We screened 580 Han Chinese in Taiwan for AZFc deletion and duplication using three PCR assays, and characterized the DAZ genes in selected subjects with additional Southern analyses. About 9.5% of our subjects have AZFc partial deletion, 2.8% have partial deletion followed by duplication, and 1.7% have partial duplication. The overall rearrangement frequencies vary significantly between different Y chromosome haplogroups (Yhgs), ranging from 2.9% in O3e to 100% in N and Q. All individuals in Yhg-N lack the sY1191 marker, but one out of three of them actually have four DAZ genes, indicating further duplication after the b2/b3 deletion. Our additional screening of 142 oligospermic men and 107 fertile controls found no significant difference in the frequencies of the gr/gr and the b2/b3 deletion. However, the frequency of AZFc partial duplication in the infertile group (7.0%) was significantly higher than that in the fertile control group (0.9%) and the general Taiwanese population (1.7%). Our results indicate that AZFc partial deletion and partial duplication are common polymorphisms in Han Chinese, and that the AZFc partial duplication, but not the AZFc partial deletion, is a risk factor for male infertility in the Taiwanese population.

译文

:Y染色体长臂上的无精子因子c(AZFc)区是人类基因组中最不稳定的区域之一。它几乎完全由很长的重复组成,容易重新排列。已经确定了AZFc的许多结构,并且据报道其中一些与男性不育有关。我们使用三种PCR分析方法筛选了580位中国台湾汉族人群中AZFc缺失和重复的情况,并通过额外的Southern分析对了选定受试者中的DAZ基因进行了表征。我们的受试者中约有9.5%的人有AZFc部分缺失,有2.8%的人部分缺失,然后重复,有1.7%的人有部分重复。在不同的Y染色体单倍组(Yhgs)之间,总体重排频率差异显着,范围从O3e的2.9%到N和Q的100%。Yhg-N中的所有个体都缺乏sY1191标记,但是其中三分之一实际上有四个DAZ基因,表明b2 / b3缺失后进一步重复。我们对142名少精症男性和107名受精对照男性进行了额外筛查,发现gr / gr和b2 / b3缺失的频率没有显着差异。然而,不育组中AZFc部分复制的频率(7.0%)显着高于可育对照组(0.9%)和台湾普通人群(1.7%)。我们的结果表明AZFc部分缺失和部分重复是汉族人的常见多态性,而AZFc部分重复而不是AZFc部分缺失是台湾人群男性不育的危险因素。

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