Alu sequence variants of the BPY2 gene in proven fertile and infertile men with Sertoli cell-only phenotype
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概要
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著者最終稿を登録可能.依頼中.Objective: The basic protein on Y chromosome, 2 gene (BPY2) is implicated in the spermatogenic process. Three copies (paralogs) of the BPY2 sequence lie in the AZFc region, within huge palindromic repeats consisting of Alu sequences located in 5' flanking regions. Our objective was to screen the single nucleotide variation of BPY2 gene paralogously.Methods: Mutation screening of the exons and 5' flanking region of the BPY2 genes was carried out by polymerase chain reaction (PCR) and sequencing in 106 infertile patients with a Sertoli cell-only (SCO) phenotype and in 126 fertile men.Results: No sequence variation was detected in any of the BPY2 exons. Paralogous A/A/A and mixed A/G genotypes are referred to the promoter of the gene. The G/G/G genotype (wild type) was observed at the rates of 89.6% (95/106) in the SCO subjects and 96.0% (121/126) in the proven-fertile subjects. The G/G/G plus mixed A/G paralogous variants and the A/A/A paralogous variant were detected in 96.2% (102/106) and 3.8% (4/106) of infertile patients with SCO, respectively. The G/G/G plus mixed A/G paralogous variants were detected in 100% (126/126) of the fertile controls, with no instances of the A/A/A phenotype, and this difference was statistically significant (P = 0.038, Fisher's exact test).Conclusion: The A/A/A genotype may be associated with the SCO phenotype. The alteration of all three copies of BPY2 within the AZFc region on the Y chromosome may affect spermatogenic process.
- 日本泌尿器科学会の論文
- 2007-05-01
著者
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KOH Eitetsu
Department of Integrative Cancer Therapy and Urology, Kanazawa University Graduate School of Medical
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MAEDA Yuji
Department of Integrative Cancer Therapy and Urology, Kanazawa University Graduate School of Medical
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NAMIKI Mikio
Department of Integrative Cancer Therapy and Urology, Kanazawa University Graduate School of Medical
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Eitetsu Kou
Department Of Integrative Cancer Therapy And Urology Kanazawa University Graduate School Of Medical
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Koh Eitetsu
Department Of Integrated Cancer Therapy And Urology Kanazawa University Graduate School
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Suzuki Hiromi
Department of Toxicology and Pathology, Nippon Roche Research Center
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CHOI Jin
Department of Earth and Environmental Sciences, Gyeongsang National University
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Choi Jin
Department Of Biochemistry School Of Medicine Kyungpook National University
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Namiki Mikio
Department Of Integrated Cancer Therapy And Urology Kanazawa University Graduate School
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Maeda Yuji
Department Of Integrative Cancer Therapy And Urology Kanazawa University Graduate School Of Medical
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YOSHIDA Atsumi
Reproduction Center Kiba Park Clinic (Tokyo)
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Namiki Mikio
Department Of Applied Physics And Science And Engineering Research Laboratory Waseda University
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Suzuki Hiromi
Department Of Brain Function Research Institute Of Environmental Medicine Nagoya University
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Yoshida Atsumi
The Reproduction Center Kiba Park Clinic
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Namiki Mikio
Department Of Integrated Cancer Therapy And Urology Andrology Unit Kanazawa University Graduate Scho
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Koh Eitetsu
Department Of Integrated Cancer Therapy And Urology Andrology Unit Kanazawa University Graduate Scho
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Kitamura Eiko
Life Science Advanced Research Institute For The Sciences And Humanities Nihon University
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Namiki Mikio
Department Of Integrative Cancer Therapy And Urology Kanazawa University Graduate School Of Medical
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Choi Jin
Department Of Integrated Cancer Therapy And Urology Kanazawa University Graduate School
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Matsukawa Yoshihisa
Department Of Urology Nagoya University Graduate School Of Medicine
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Namiki Mikio
Department Of Integrative Cancer Therapy And Urology Kanazawa University Graduate School Of Medical
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Choi Jin
Department Of Agricultural Engineering Chonbuk National University
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Namiki Mikio
Department Of Applied Physics : Science And Engineering Research Laboratory Waseda University
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Suzuki Hiromi
Department Of Integrated Cancer Therapy And Urology Kanazawa University Graduate School
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Yoshida Atsumi
Reproduction Center Kiba Park Clinic
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