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目的:DPY19L2基因纯合缺失是圆头精子症发生的主要原因,本文探讨1例圆头精子症患者DPY19L2基因突变情况。方法:通过瑞氏-姬姆萨染色法和透射电镜对精子进行组织形态学观察;采用PCR扩增及DNA测序技术检测圆头精子症DPY19L2基因突变情况,并与Genbank所公布的序列进行比对。结果:精子形态学检查为精子顶体发育异常,均为圆头精子,顶体异常精子为100%;瑞氏-姬姆萨染色光镜观察发现,精子头部全部为圆形,无顶体,头核显示深色,充实,浓染。精子在电镜下呈较大圆头,核周围有一层均匀的单位膜,无顶体结构,有弥散的细胞质扩散和空泡;采用PCR扩增及DNA测序技术检测患者的DPY19L2基因无突变。结论:该圆头精子症患者DPY19L2基因未见纯合缺失,可能存在其他致病基因。
OBJECTIVE: The deletion of DPY19L2 gene homozygous is the main reason for the occurrence of round spermatozoa. This study was to investigate the mutation of DPY19L2 gene in a patient with round spermatozoa. Methods: The morphology of sperm was observed by Wright-Giemsa staining and transmission electron microscopy. The mutation of DPY19L2 gene was detected by PCR amplification and DNA sequencing, and compared with the published sequence of Genbank . Results: Morphological examination of spermatozoa showed abnormal development of sperm acrosome, all of which were round sperm and 100% of acrosomal sperm were abnormal. The Wright-Giemsa staining showed that the sperm head was all round, , The nucleus shows dark, full, thick dye. Sperm had a larger round head under electron microscope. There was a uniform unit membrane around the nucleus. There was no acrosome structure, diffuse cytoplasm diffusion and vacuolization. The mutation of DPY19L2 gene was detected by PCR amplification and DNA sequencing. Conclusion: There is no homozygous deletion of DPY19L2 gene in the round spermatozoa, and other pathogenic genes may exist.