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Hum. Reprod. Advance Access originally published online on November 17, 2005
Human Reproduction 2006 21(3):755-759; doi:10.1093/humrep/dei388
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© The Author 2005. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Single nucleotide polymorphisms of the gonadotrophin-regulated testicular helicase (GRTH) gene may be associated with the human spermatogenesis impairment

Zhoucun A1,2, Sizhong Zhang1,3, Yuan Yang1, Yiongxin Ma1, Li Lin1 and Wei Zhang1

1 Department of Medical Genetics, West China Hospital, Sichuan University, and Division of Human Morbid Genomics, National Key Laboratory of Biotherapy, Chengdu, 610041, 2 Department of Biology and Chemistry, Dali College, Dali, 671000, China

3 To whom correspondence should be addressed at: Department of Medical Genetics, West China Hospital, Sichuan University, Renmin Nanlu Section 3, No. 17, Chengdu, 610041, China. E-mail: szzhang{at}vip.163.com; sizhongzhang{at}hotmail.com

BACKGROUND: Gonadotropin-regulated testicular RNA helicase (GRTH) is a testis-specific RNA helicase that is essential for completion of spermatogenesis and is involved in pathogenesis of impaired spermatogenesis in mouse. It is therefore reasonable to postulate that human GRTH gene may also play a role in impaired spermatogenesis in humans. To test this hypothesis, we investigated the possible association between the variations of the GRTH gene and human spermatogenesis impairment. METHODS: Mutation screening of exons and intron/exon boundaries of GRTH gene was carried out by denaturing high-performance liquid chromatography (DHPLC) in 347 infertile patients with idiopathic azoospermia and severe oligozoospermia as well as 201 fertile men. RESULTS: Four single nucleotide polymorphisms (SNP), namely IVS6+55G->T, ISV8+10A->C, c.852C->T and c.927G->A, were identified. Among them, significant differences in polymorphism frequencies were observed at the polymorphic IVS6+55G->T and c.852C->T loci between the patients and controls, and a significant association between haplotypes of these two loci and male infertility with impaired spermatogenesis was detected. CONCLUSIONS: Results of the present study indicate that SNP IVS6+55G->T and c.852C->T of GRTH gene may be associated with male infertility with azoospermia or severe oligozoospermia, suggesting that variations in GRTH gene may contribute to susceptibility to spermatogenic impairment in humans.

Key words: GRTH gene/single nucleotide polymorphism/spermatogenesis impairment


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