RESUMO
Objective To evaluate the value of sperm acrosomal arginine enzyme activity in the diagnosis and treatment of male infertility by studying its relationship with sperm motility and morphology.Methods The sperm acrosomal arginine enzyme activity was detected by chemical colorimetric method,and the routine parameters of sperm and sperm morphology were detected by computer-aided analysis.Results There were significant differences on sperm concentration,motility and progressive motility between normal sperm acroso-mal arginine enzyme activity group and abnormal sperm acrosomal arginine enzyme activity group(P<0.05). The percentage of deformities in head,neck and middle segment were significant different between normal sperm acrosomal arginine enzyme activity group and abnormal sperm acrosomal arginine enzyme activity group (P<0.05).Conclusion T he activity of sperm acrosin is a very efficient marker in sperm quality,and an effec-tive indicator of the evaluation of sperm fertilization potential and the diagnosis of male infertility.
RESUMO
<p><b>OBJECTIVE</b>To detect FOXL2 gene mutation in a Chinese pedigree affected with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) type I, and to explore its genotype-phenotype correlation.</p><p><b>METHODS</b>Peripheral blood samples were obtained from 3 patients and 19 healthy members from the pedigree for the isolation of genomic DNA. All exons and flanking sequences of the FOXL2 gene were amplified by PCR with 7 pairs of overlapping primers and sequenced.</p><p><b>RESULTS</b>DNA sequencing indicated that the BPES phenotype in this pedigree was caused by a hotspot c.843_859dup17 mutation. The same mutation was not found among the healthy members of the pedigree.</p><p><b>CONCLUSION</b>The c.843_859dup17 frameshift mutation probably underlies the BPES type I in this Chinese pedigree, which may manifest as either BEPS type I or type II.</p>