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Associations of homologous RNA-binding motif gene on the X chromosome(RBMX)and its like sequence on chromosome 9(RBMXL9)with non-obstructive azoospermia

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Asian Journal of Andrology 2006年第2期8卷 213-218页

作者： akiratsujimura KazutoshiFujita KazuhikoKomori PhanuTanjapatkul YasushiMiyagawa ShingoTakada Kiyomi Matsumiya Masaharu Sada Yoshihiko Katsuyama Masao Ota Akihiko Okuyama Department of Urology Graduate School of MedicineOsaka UniversitySuita 565-0871Japan Department of Urology Osaka Police HospitalOsaka 543-8502Japan Department of Surgical Research National Cardiovascular CenterSuita 565-8565Japan Department of Pharmacology Department of Legal Medicine Shinshu University School of MedicineMatsumoto 390-8621Japan Department of Urology Graduate School of Medicine Osaka UniversitySuita 565-0871Japan

Aim： To investigate the associations of autosomal and X-chromosome homologs of the RNA-binding-motif （RNAbinding-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. （Asian J Andro12006 Mar; 8： 213-218）

关键词： spermatogenesis homologous RBMY polymorphism microsatellite marker azoospennia Y chromosome

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Inter/intra investigator variation in orchidometric measure-ments of testicular volume by ten investigators from five insti-tutions

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Asian Journal of Andrology 2006年第3期8卷 373-378,391页

作者： Shinobu Tatsunami KiyomiMatsumiya akiratsujimura NaokiItoh TakumiSasao EitetsuKoh YuujiMaeda JiroEguchi KousukeTakehara TakayasuNishida SatetsuMiyano Chisato Tabata Teruaki Iwamoto Unit of Medical Statistics Faculty of Medical Education and CultureSt.Marianna University School of MedicineKawasaki 216-8511Japan Department of Urology Osaka UniversityOsaka 565-0871Japan Department of Urology Sapporo Medical UniversitySapporo 060-8543Japan Department of Urology Kanazawa UniversityKanazawa 920-8641Japan Department of Urology Nagasaki UniversityNagasaki 852-8501Japan Department of Urology Marianna University School of Medicine HospitalKawasaki 216-8511Japan Ultrasound Center St.Marianna University School of Medicine HospitalKawasaki 216-8511Japan

Aim:To perform quality control studies on testicular volume measurements for a multi-center epidemiological study of male reproductive ***:We constructed a data matrix with a balanced assignment for 2 consecutive days by ten investigators(andrological career:4-21 years)from five institutions and 12 male volunteers aged 20-26 *** volume was measured by Prader's orchidometer.A skilled technician also perfornled an ultrasound estimate of testicular ***:A statistically significant inter-investigator variation was found *'or both testes (P0.05).The difference in experiences of the investigators did not significantly correlate with accuracy of measurements in either ***:The present study revealed significant differences in the results of estimation of testicular volume among the ten investigators,but intra-investigator variation was not *** training and proper standardization of the measurement will be necessary before starting a multi-center study based on an andrological examination,

关键词： testicular volume orchidometer quality control

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