The Association of Partial Azoospermia Factor C Deletions and Male Infertility in Northwestern China

IF 1.1 4区生物学 Q4 GENETICS & HEREDITY Human Heredity Pub Date : 2019-12-05 DOI:10.1159/000504607

Chunlian Liu, Xinyang Zhao, Chunlan Mu, Hui Li, Jia Ma, Haiyan Jiao, Z. Huo

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引用次数: 3

Abstract

Background: Male infertility is a major health issue worldwide. Y chromosome microdeletions are well-characterized genetic causes of male infertility. The association of partial AZFc deletions (gr/gr, b2/b3, and b1/b3) with male infertility is not well confirmed in diverse populations. The purpose of the present study was to investigate the frequency of partial AZFc deletions and their association with male infertility in a population from Northwestern China. Methods: Multiplex polymerase chain reaction was used to detect partial AZFc deletions in 228 infertile patients. We analyzed 141 cases of azoospermia (AS), 87 cases of oligozoospermia (OS), and 200 fertile controls. Results: Our data showed that the frequency of a b2/b3 deletion in infertile men, men with AS, men with OS, and controls was 3.51, 2.13, 5.75, and 0.00%, respectively. The frequency of this deletion was significantly different between the infertile group and the control group (3.51 vs. 0.00%, respectively, p = 0.021) and between the OS group and the control group (5.75 vs. 0.00%, respectively, p = 0.003). The frequency of a gr/gr deletion in each group was 11.84, 9.22, 16.09, and 7.50%, respectively. The frequency of a gr/gr deletion was significantly different between the OS group and the control group (16.09 vs. 7.50%, respectively, p = 0.026) but not between the infertile group and the control group (11.84 vs. 7.50%, p = 0.132) or the AS group and the control group (9.22 vs. 7.50%, p = 0.569). The frequency of a b1/b3 deletion was 0.44, 0.71, 0.00, and 3.00%, respectively. For this deletion, there was no significant difference between the infertile (0.44 vs. 3.00%, p = 0.089), AS (0.71 vs. 3.00%, p = 0.276), and OS groups (0.00 vs. 3.00%, p = 0.236) and the control group. Conclusions: Our results suggest that the b2/b3 deletion might be associated with male infertility and that the gr/gr deletion might be associated with spermatogenic failure in men with OS in Northwestern China (Ningxia).

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中国西北地区部分无精子症因子C缺失与男性不育症的关系

背景：男性不育是世界范围内的一个主要健康问题。Y染色体微缺失是男性不育的典型遗传原因。AZFc部分缺失（gr/gr、b2/b3和b1/b3）与男性不育的相关性在不同人群中尚未得到很好的证实。本研究的目的是调查中国西北地区人群中AZFc部分缺失的频率及其与男性不育的关系。方法：应用多重聚合酶链反应检测228例不孕患者的AZFc部分缺失。我们分析了141例无精子症（AS）、87例少精症（OS）和200例可育对照。结果：我们的数据显示，不育男性、AS男性、OS男性和对照组的b2/b3缺失频率分别为3.51、2.13、5.75和0.00%。不孕组和对照组之间这种缺失的频率有显著差异（分别为3.51和0.00%，p=0.021），OS组和对照对照组之间（分别为5.75和0.00%）。各组的gr/gr缺失频率分别为11.84、9.22、16.09和7.50%。OS组和对照组之间的gr/gr缺失频率显著不同（分别为16.09%和7.50%，p=0.026），但不孕组和对照对照组之间（11.84和7.50%）或AS组和对照小组之间（9.22对7.50%，p=0.569）没有差异。b1/b3缺失频率分别为0.44%、0.71、0.00和3.00%。对于这种缺失，不孕组（0.44 vs.3.00%，p=0.089）、AS组（0.71 vs.3.00%，p=0.276）、OS组（0.00 vs.3.000%，p=0.236）与对照组之间没有显著差异。结论：我们的研究结果表明，b2/b3缺失可能与中国西北（宁夏）OS男性不育有关，gr/gr缺失可能与生精失败有关。

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来源期刊

Human Heredity 生物-遗传学

CiteScore

2.50

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Gathering original research reports and short communications from all over the world, ''Human Heredity'' is devoted to methodological and applied research on the genetics of human populations, association and linkage analysis, genetic mechanisms of disease, and new methods for statistical genetics, for example, analysis of rare variants and results from next generation sequencing. The value of this information to many branches of medicine is shown by the number of citations the journal receives in fields ranging from immunology and hematology to epidemiology and public health planning, and the fact that at least 50% of all ''Human Heredity'' papers are still cited more than 8 years after publication (according to ISI Journal Citation Reports). Special issues on methodological topics (such as ‘Consanguinity and Genomics’ in 2014; ‘Analyzing Rare Variants in Complex Diseases’ in 2012) or reviews of advances in particular fields (‘Genetic Diversity in European Populations: Evolutionary Evidence and Medical Implications’ in 2014; ‘Genes and the Environment in Obesity’ in 2013) are published every year. Renowned experts in the field are invited to contribute to these special issues.