Alu sequence variants of the BPY2 gene in proven fertile and infertile men with Sertoli cell-only phenotype
Alu sequence variants of the BPY2 gene in proven fertile and infertile men with Sertoli cell-only phenotype
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DOI：
10.1111/j.1442-2042.2007.01741.x
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发表时间：
2007-05-01
影响因子：
2.6
通讯作者：
Namiki, Mikio
中科院分区：
文献类型：
--
作者：
Choi, Jin;Koh, Eitetsu;Namiki, Mikio
目的：Y染色体碱性蛋白2基因（BPY 2）参与精子发生过程。BPY 2序列的三个拷贝（旁系同源物）位于AZFc区，在由位于5'侧翼区的Alu序列组成的巨大回文重复序列内。方法：采用聚合酶链反应（PCR）和测序技术，对106例单睾丸支持细胞（SCO）型不育患者和126例正常生育男性的BPY 2基因外显子和5'端侧翼区进行突变筛查。旁系同源A/A/A和混合A/G基因型是指基因的启动子。SCO组G/G/G基因型（野生型）的检出率为89.6%（95/106），证明能育组为96.0%（121/126）。在SCO不育患者中，G/G/G + A/G旁系同源混合型和A/A/A旁系同源混合型的检出率分别为96.2%（102/106）和3.8%（4/106）。126例正常生育者中100%（126/126）为G/G/G + A/G混合旁系同源变异，无一例为A/A/A表型，差异有统计学意义（P = 0.038，Fisher精确检验）。Y染色体AZFc区BPY 2基因的三个拷贝的改变可能影响精子发生过程。
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.