Partial AZFc duplications not deletions are associated with male infertility in the Yi population of Yunnan Province, China

CORC > 昆明动物研究所 > 昆明动物研究所 > 遗传资源与进化国家重点实验室 > 保护遗传学(细胞库)

	Partial AZFc duplications not deletions are associated with male infertility in the Yi population of Yunnan Province, China
	Ye JJ 2; Ma L 2; Yang LJ 2; Wang JH 1; Wang YL 3; Guo H 3; Gong N 4; Nie WH[]1; Zhao SH[]2
刊名	JOURNAL OF ZHEJIANG UNIVERSITY-SCIENCE B
	2013
卷号	14 期号:9 页码:807-815
关键词	Azoospermia factor c (AZFc) AZFc polymorphism b2/b3 gr/gr Infertility
通讯作者	whnie@mail.kiz.ac.cn ; sowardzhao@gmail.com
合作状况	其它
英文摘要	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.
收录类别	SCI
资助信息	Project (No. GREKF09-08) supported by the State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, China
语种	英语
WOS记录号	WOS:000325458100006
公开日期	2013-11-11
内容类型	期刊论文
源URL	[http://159.226.149.42:8088/handle/152453/7697]
专题	昆明动物研究所_保护遗传学(细胞库) 昆明动物研究所_遗传资源与进化国家重点实验室
作者单位	1.State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, Chin 2.Yunnan Key Laboratory of Fertility Regulation and Minority Eugenics, Yunnan Population and Family Planning Research Institute, Kunming 650021, Chin 3.Department of Urology, Kunming General Hospital of Chengdu Military Command, Kunming 650032, China 4.Haiyuan College, Kunming Medical University, Kunming 650021, China
推荐引用方式 GB/T 7714	Ye JJ,Ma L,Yang LJ,et al. Partial AZFc duplications not deletions are associated with male infertility in the Yi population of Yunnan Province, China[J]. JOURNAL OF ZHEJIANG UNIVERSITY-SCIENCE B,2013,14(9):807-815.
APA	Ye JJ.,Ma L.,Yang LJ.,Wang JH.,Wang YL.,...&Zhao SH[*].(2013).Partial AZFc duplications not deletions are associated with male infertility in the Yi population of Yunnan Province, China.JOURNAL OF ZHEJIANG UNIVERSITY-SCIENCE B,14(9),807-815.
MLA	Ye JJ,et al."Partial AZFc duplications not deletions are associated with male infertility in the Yi population of Yunnan Province, China".JOURNAL OF ZHEJIANG UNIVERSITY-SCIENCE B 14.9(2013):807-815.