|
Volume 8, Issue 2 (March 2006) 8, 213–218; 10.1111/j.1745-7262.2006.00107.x
Associations of homologous RNA-binding motif gene on the X chromosome (RBMX) and its like sequence on chromosome 9 (RBMXL9) with non-obstructive azoospermia
Akira Tsujimura, Kazutoshi Fujita, Kazuhiko Komori, Phanu Tanjapatkul, Yasushi Miyagawa, Shingo Takada, Kiyomi Matsumiya, Masaharu Sada, Yoshihiko Katsuyama, Masao Ota and Akihiko Okuyama
1.Department of Urology, Graduate School of Medicine, Osaka University, Suita 565-0871, Japan
2.Department of Urology, Osaka Police Hospital, Osaka 543-8502, Japan
3.Department of Surgical Research, National Cardiovascular Center, Suita 565-8565, Japan
4.Department of Pharmacology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan
5.Department of Legal Medicine, Shinshu University School of Medicine, Matsumoto 390-8621, Japan
Correspondence: Dr Akira Tsujimura, Department of Urology, Graduate School of Medicine, Osaka University, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan. Fax: +81-6-6879-3539. E-mail: akitsuji@uro.med.osaka-u.ac.jp
Received 14 July 2005; Accepted 24 October 2005.
| Abstract |
|
Aim: To investigate the associations of autosomal and X-chromosome homologs of the RNA-binding-motif (RNA-binding-motif on the Y chromosome, RBMY) gene with non-obstructive azoospermia (NOA), as genetic factors for NOA may map to chromosomes other than the Y chromosome.
Methods: Genomic DNA was extracted using a salting-out procedure after treatment of peripheral blood leukocytes with proteinase K from Japanese patients with NOA (n = 67) and normal fertile volunteers (n = 105). The DNA were analyzed for RBMX by expressed sequence tag (EST) deletion and for the like sequence on chromosome 9 (RBMXL9) by microsatellite polymorphism.
Results: We examined six ESTs in and around RBMX and found a deletion of SHGC31764 in one patient with NOA and a deletion of DXS7491 in one other patient with NOA. No deletions were detected in control subjects. The association study with nine microsatellite markers near RBMXL9 revealed that D9S319 was less prevalent in patients than in control subjects, whereas D9S1853 was detected more frequently in patients than that in control subjects.
Conclusion: We provide evidence that deletions in or around RBMX may be involved in NOA. In addition, analyses of markers in the vicinity of RBMXL9 on chromosome 9 suggest the possibility that variants of this gene may be associated with NOA. Although further studies are necessary, this is the first report of the association between RBMX and RBMXL9 with NOA.
Keywords: spermatogenesis, homologous RBMY, polymorphism, microsatellite marker, azoospermia, Y chromosome
Full Text |
PDF |
中文摘要 |
|
| |
| Browse: 3637 |
|
