1例圆头精子症患者DPY19L2基因突变检测  

Detection of DPY19L2 gene mutation in a globozoospermia patient

作　　者：吴秋月[1] 李娜[1] 李天赋 李卫巍[1] 张翠[1] 邵永[1] 崔英霞[1] 殷志敏[2] 夏欣一[1] 李正荣[3] 

机构地区：[1]南京军区南京总医院解放军临床检验医学研究所,江苏南京210002 [2]南京师范大学生命科学院,江苏南京210046 [3]南京医科大学基础医学院细胞生物学系,江苏南京210029

出　　处：《中华男科学杂志》2013年第11期1011-1015,共5页National Journal of Andrology

基　　金：江苏省自然科学基金(BK2011660);江苏省科技厅省级科技专项(BM2013058)~~

摘　　要：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。[ Abstract] Objective： Globozoospermia is mostly associated with homozygous deletion of the DPY19L2 gene. This study aimed to investigate the DPY19L2 gene mutation in a globozoospermia patient. Methods： We observed the sperm histomorphology of a pa- tient with globozoospermia using Wright-Giemsa＇s staining and transmission electron microscopy, detected the mutation of the DPY19L2 gene by PCR amplification and DNA sequencing, and compared the findings with the sequences issued in the Genbank. Results： Wright-Giemsa＇s staining showed that all the spermatozoa were round-headed and lacked the acrosome, with the head nucleus darkly, fully and densely stained. Transmission electron microscopy revealed larger round sperm heads, with an even layer of unit membrane surrounding the nuclei and dispersed cytoplasmic vacuoles but no acrosomal structure. No DPY19L2 gene mutation was found by PCR amplification and DNA sequencing. Conclusion： No homozygous mutation of the DPY19L2 gene was found in the globozoospermia patient, and therefore some other disease-causing genes might be involved. Natl J Androl. 2013. 19 （11） ： 1011 -1015

关 键 词：圆头精子症 超微结构 DPY19L2基因 

分 类 号：R698.2[医药卫生—泌尿科学]