Division of Molecular Genetics, Institute for Comprehensive Medical Science, Toyoake, Japan.
Gynecol Obstet Invest. 2010;69(2):116-21. doi: 10.1159/000262451. Epub 2009 Dec 2.
BACKGROUND/AIMS: To determine whether genetic alterations in the CD9 gene are associated with female infertility in humans.
We sequenced the entire coding region of this gene in 86 Japanese women with unexplained infertility and further conducted a case-control study of six tagging single nucleotide polymorphisms (SNPs) in this gene using an additional 164 samples obtained from a fertile control group.
No disease-causing mutation in the CD9 gene was evident in these samples and no significant association between the tagging SNPs and the studied cohort was identified.
Our findings do not support the hypothesis that genetic alterations of the CD9 gene cause female infertility in humans.
背景/目的：确定 CD9 基因的遗传改变是否与人类女性不孕有关。
我们对 86 名日本不明原因不孕女性的该基因全长编码区进行了测序，并进一步使用从生育能力正常对照组获得的另外 164 个样本对该基因的六个标记单核苷酸多态性（SNP）进行了病例对照研究。
这些样本中没有 CD9 基因的致病突变，也没有发现标记 SNP 与研究队列之间存在显著关联。
我们的研究结果不支持 CD9 基因突变导致人类女性不孕的假说。
