Palindromic sequence-mediated de novo chromosome translocation in sperm samples derived from normal and oligospermic males / 中华男科学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To systematically explore the occurrence of a novel type of chromosome translocation in human sperm samples.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>