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原发男性不育患者精蛋白基因的初步研究 被引量:3

STUDIES ON PROTAMINE GENE IN MALE INFERTILITY
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摘要 为了解男性不育患者精子发育中组蛋白到精蛋白的转换机理、转换障碍与不育的关系,从87例原发不育患者和9例正常可育者精液标本中,提取生殖细胞核碱性蛋白,进行醋酸尿素凝胶电泳。结果显示8例精蛋白异常,异常率9.19%,全部涉及精蛋白2组分的缺乏。异常与正常个体相比,精蛋白占核碱性蛋白比例由55.91±7.4%下降为4.18±2.23%,说明精蛋白的异常,尤其是精蛋白2的缺乏,可能导致精蛋白的功能缺陷,是造成原发男性不育原因之一。对精蛋白异常不育和正常可育的20名DNA标本(8例精蛋白异常不育个体,8例精蛋白正常不育个体,4例正常可育).以P2的基因探针进行了DNA杂交,用特异扩增P1、P2、TP2编码区的引物对全部DNA标本进行了PCR扩增和PCR-SSCP分析,结果未见突变、插入和缺失等异常。初步说明精蛋白异常者在这三个编码区内DNA的结构异常可能性极小。由此提示,进一步的深入研究工作,应注重编码区旁侧调控序列以及考察转录、翻译及翻译后加工各个环节的影响。 The nuclear basic proteins were extracted from cells of seminal fluid of 87 infertile men and 9 normal fertile individuals,and were analysed by PAGE and microdensitometric scans. It was found that 8 individuals(9.1%)had abnormal level of protamine,and all of them lacked protamine 2.The percentage of protamine to total nuclear basic protein is lower than that in normal cases,with the average of 4.18±2.23%VS.55.91±7.4%respectively.The result implies that the lack of protamine 2may lead to abnormal protamine function,which may cause male infertility. Southern hvbridization was carried out with cDNA probes with DNA of infertile men with abnormal or normal protamine,Also,PCR amplification and PCR-SSCP with P1,P2.and TP2 gene primers (for coded region) were performed.The preliminary results did not showe abnormal DNA bands or mutations,This suggested that although some infertile cases have abnormal protamine,the deletion and mutation are unlikely in the coded region of protamine gene.So,the flanking regulatory region,the transcription,trarislation and posttranslational processing of the genes should be studied.
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 1996年第1期11-14,共4页 Chinese Journal of Medical Genetics
基金 国家自然科学基金
关键词 精蛋白 基因 男性不育 Protamine Protamine gene Infertile men
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