血红素加氧酶-1 基因启动子 GT 重复扩展研究作为男性不育的遗传原因。
Study of GT-repeat expansion in Heme oxygenase-1 gene promoter as genetic cause of male infertility.
机构信息
Tarbiat Modarres University, Tehran, Iran.
出版信息
J Assist Reprod Genet. 2011 Aug;28(8):737-41. doi: 10.1007/s10815-011-9574-0. Epub 2011 May 10.
PURPOSE
The length of GT-repeats polymorphic region in the promoter of human Heme oxygenase-1 gene (HO-1) alters the level of its transcriptional activity in response to oxidative stresses. Decreased level of HO-1 protein in the seminal plasma has been reported to be associated with oligospermia and azoospermia in male infertility. This is the first study to investigate the association between GT-repeats expansion in the promoter of the HO-1 gene and male infertility.
METHODS
The frequencies of different GT-repeats alleles in the promoter of HO-1 gene were determined in 100 cases and 100 normal controls using PCR-PAGE, ABI fragment analysis genotyping and sequencing analysis.
RESULTS
All alleles were classified into S and L alleles. S alleles were specified as number 0 to 3 with <27 GT-repeats and L alleles were specified as number 4 to 6 with >27 repeats. The L allele frequency was significantly higher among case group (54.5%) than that was obtained in the normal control group (37.5%). Statistical analysis provided a significant relationship between L allele and male infertility (P < 0.001).
CONCLUSIONS
This study shows for the first time that GT-repeats expansion in promoter of the HO-1 gene is associated with oligospermia and azoospermia among Iranian infertile cases.
目的
人类血红素加氧酶-1 基因（HO-1）启动子中的 GT-重复多态区的长度改变了其对氧化应激的转录活性水平。已报道精液中 HO-1 蛋白水平降低与男性不育症中的少精子症和无精子症有关。这是第一项研究 HO-1 基因启动子中 GT-重复扩展与男性不育之间的关联。
方法
使用 PCR-PAGE、ABI 片段分析基因分型和测序分析，在 100 例病例和 100 例正常对照中确定 HO-1 基因启动子中不同 GT-重复等位基因的频率。
结果
所有等位基因均分为 S 和 L 等位基因。S 等位基因指定为<27 个 GT 重复的 0 到 3 号，L 等位基因指定为>27 个重复的 4 到 6 号。病例组 L 等位基因频率（54.5%）明显高于正常对照组（37.5%）。统计分析提供了 L 等位基因与男性不育之间的显著关系（P<0.001）。
结论
本研究首次表明 HO-1 基因启动子中的 GT-重复扩展与伊朗不育病例中的少精子症和无精子症有关。
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