摘要
目的:探讨人类精子中由回文序列介导的一类新型染色体突变的发生规律。方法:对28例少精子症以及32例正常生育男性的精液样本,采用巢式及多重巢式PCR检测其中特定的易位DNA序列,并对结果进行统计学分析。结果:49例存在t(11;22)易位突变,其中少精子症组22例,正常生育组27例,两组之间差异无显著性(χ2=0.336,P>0.05)。此外,至少4例亦存在t(1;22)(p21.2;q11.2)、t(17;22)(q11;q11)或t(X;22)(q27;q11)易位突变。易位的发生与精子密度(r=-0.389,P<0.05)、活动率(r=-0.397,P<0.05)呈负相关,而与精液量或供精者年龄无显著相关;未发现易位突变率与回文序列的相似度之间存在关联。结论:由回文序列介导的染色体突变在人类精子中普遍存在,且与精子密度、活动率相关。对这类突变进行动态量化检测可望提供一种从分子水平评估精子质量的手段。
Objective： To systematically explore the occurrence of a novel type of chromosome translocation in human sperm samples. Methods： Specific translocation junction fragments were quantified using nested and/or multi-nested PCR in sperm DNA derived from 28 oligospermic patients and 32 normal controls. Results： t（ 11 ;22） was detected in 49 samples. At least 4 samples were found to have t（1 ;22） （p21.2;q11.2）, t（17;22）（q11 ;q11） or t（X;22）（q27;q11）. The mutation rate seemed to be associated not with age or semen volume, but with sperm concentration （ r = - 0.389, P 〈 0.05 ） and motility（ r = - 0. 397, P 〈 0.05 ）. Correlation was not found between homology of palindromic sequences and mutation rate. Conclusion ： Palindromic sequence mediated chromosome translocation is common in human sperm, and associated with sperm concentration and motility. Measurement of such mutations may provide a molecular-level reference for assessing sperm quality.
出处
《中华男科学杂志》
CAS
CSCD
2007年第8期675-680,共6页
National Journal of Andrology
基金
国家自然科学基金(30571867)
辽宁省教育厅科研经费(辽教发[2005]153号)
关键词
染色体易位
精子质量
遗传突变
回文序列
少精子症
正常生育男性
chromosome translocation
sperm quality
genetic mutation
palindromic sequence
oligospermia
normal fertile male
