Partial AZFc duplications not deletions are associated with male infertility in the Yi population of Yunnan Province, China
Partial AZFc duplications not deletions are associated with male infertility in the Yi population of Yunnan Province, China
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DOI：
10.1631/jzus.b1200301
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发表时间：
2013-09-01
影响因子：
5.1
通讯作者：
Zhao, Shu-hua
中科院分区：
文献类型：
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作者：
Ye, Jun-jie;Ma, Li;Zhao, Shu-hua
目的：有许多关于精子发生与部分无精子因子c（AZFc）缺失以及重复之间的关联的报道;然而，结果是相互矛盾的，可能是由于方法学和种族背景的差异。本研究的目的是探讨AZFc基因多态性与云南彝族男性不育的关系。方法：选择彝族不育患者224例，正常生育者153例。该研究通过序列标记位点加/减（STS+/-）分析，随后进行基因剂量和基因拷贝定义分析来进行。采用基于单碱基引物延伸技术的Y染色体单核苷酸多态性（Y-SNP）多重检测技术，用12个二元标记对215例病例和115例对照进行Y单倍型的检测。结果：病例组与对照组Y单倍型分布无显著性差异。gr/gr（7.6% vs. 8.5%）和b2/b3（6.3% vs. 8.5%）缺失的频率没有显示出显著差异。同样，单核苷酸变异（SNV）分析显示病例组和对照组之间的基因拷贝定义没有显著差异。但不育组部分重复频率（4.0%）明显高于对照组（0.7%）。此外，我们还发现了一例sY 1206缺失的病例，该病例有两个CDY 1拷贝，但去除了一半的DAZ基因。结论：结果表明，彝族男性不育与部分AZFc重复有关，而与gr/gr和b2/b3缺失无关，提示部分AZFc重复而非缺失是彝族男性不育的危险因素。
Objective: There are many reports on associations between spermatogenesis and partial azoospermia factor c (AZFc) deletions as well as duplications; however, results are conflicting, possibly due to differences in methodology and ethnic background. The purpose of this study is to investigate the association of AZFc polymorphisms and male infertility in the Yi ethnic population, residents within Yunnan Province, China. Methods: A total of 224 infertile patients and 153 fertile subjects were selected in the Yi ethnic population. The study was performed by sequence-tagged site plus/minus (STS+/-) analysis followed by gene dosage and gene copy definition analysis. Y haplotypes of 215 cases and 115 controls were defined by 12 binary markers using single nucleotide polymorphism on Y chromosome (Y-SNP) multiplex assays based on single base primer extension technology. Results: The distribution of Y haplotypes was not significantly different between the case and control groups. The frequencies of both gr/gr (7.6% vs. 8.5%) and b2/b3 (6.3% vs. 8.5%) deletions do not show significant differences. Similarly, single nucleotide variant (SNV) analysis shows no significant difference of gene copy definition between the cases and controls. However, the frequency of partial duplications in the infertile group (4.0%) is significantly higher than that in the control group (0.7%). Further, we found a case with sY1206 deletion which had two CDY1 copies but removed half of DAZ genes. Conclusions: Our results show that male infertility is associated with partial AZFc duplications, but neither gr/gr nor b2/b3 deletions, suggesting that partial AZFc duplications rather than deletions are risk factors for male infertility in Chinese-Yi population.