Kramer J A, Zhang S, Yaron Y, Zhao Y, Krawetz S A
Department of Obstetrics & Gynecology, Wayne State University School of Medicine, Detroit, MI 48102, USA.
Genet Test. 1997;1(2):125-9. doi: 10.1089/gte.1997.1.125.
Numerous reports have suggested that disturbances in nuclear condensation may result in male infertility. This notion has been supported by the observation of infertile individuals with a decrease or absence of the male sperm-specific chromatin packaging protamine proteins. To date, no correlation between the absence of protamine proteins and a mutation within the coding regions of the protamine genes has been documented. To address this issue, PCR-based mutation scanning analysis has been performed across the human male haploid expressed PRM1-->PRM2-->TNP2 domain in several oligozoospermic infertile individuals. This analysis identified a candidate mutation in a region of contact with the sperm nuclear matrix from 2 of 5 affected individuals. This is the first report of a mutation scan covering the entire PRM1-->PRM2-->TNP2 locus in affected individuals.
大量报告表明，核凝聚紊乱可能导致男性不育。这一观点得到了对不育个体观察结果的支持，这些个体中男性精子特异性染色质包装鱼精蛋白减少或缺失。迄今为止，尚未有文献记载鱼精蛋白缺失与鱼精蛋白基因编码区突变之间的关联。为解决这一问题，对几名少精子症不育个体的人类男性单倍体表达的PRM1→PRM2→TNP2结构域进行了基于PCR的突变扫描分析。该分析在5名受影响个体中的2名个体中，发现了一个与精子核基质接触区域的候选突变。这是首篇报道在受影响个体中对整个PRM1→PRM2→TNP2基因座进行突变扫描的研究。
