圆头精子症患者精子形态观察及全外显子测序分析  

Sperm morphology observation and gene mutation detection in a patient with globozoospermia

作　　者：王红梅[1] 李文悌 庄春波 张世杰[1] 李兴武[1] WANG Hongmei;LI Wenti;ZHUANG Chunbo;ZHANG Shijie;LI Xingwu(Department of Clinical Laboratory, the First Affiliated Hospital,Zhengzhou University,Zhengzhou 450052)

机构地区：[1]郑州大学第一附属医院检验科,郑州450052

出　　处：《郑州大学学报（医学版）》2021年第1期86-89,共4页Journal of Zhengzhou University(Medical Sciences)

摘　　要：目的:观察1例圆头精子症患者的精子形态,并进行全外显子测序,探索其发病的遗传学基础。方法:取1例圆头精子症患者和1名健康对照精液各2μL,滴于GoldCyto Spermblue精子形态染色分析玻片上,用光学显微镜观察精子形态。抽取患者静脉血3 mL,提取基因组DNA,进行全外显子测序,并采用实时荧光定量PCR和Sanger测序方法对全外显子测序检测到的基因变异进行验证。结果:患者所有精子均为圆形头,仅见深染的细胞核,无顶体;该患者DPY19L2基因纯合缺失,同时携带DNAH1基因c.871+3G>A杂合突变以及ZMYND10基因c.833G>C杂合突变。结论:DPY19L2基因纯合缺失可能是本例圆头精子症的发病原因。Aim:To observe the morphology of sperm in a patient with globozoospermia,and explore the genetic basis using whole exome sequencing(WES).Methods:The semen sample(2 mL)from a patient with globozoospermia and a normal control was stained using GoldCyto Spermblue morphology pre-stained slides,then morphological observations were performed under optical microscopes.Moreover,peripheral blood sample(3 mL)of the patient was prepared and gene mutations of the patient were analyzed by WES technology.Real-time quantitative PCR and Sanger sequencing were performed to validate the genetic variation detected by WES.Results:All the patient′s sperms were round-headed,only with deeply stained nuclei,but no acrosomes.The result of WES showed a homozygous deletion of DPY19L2 gene,and mutations in DNAH1(c.871+3G>A)and ZMYND10(c.833G>C).Conclusion:The homozygous deletion of DPY19L2 gene may be the cause of globozoospermia in this case.

关 键 词：不育症 圆头精子 全外显子测序 DPY19L2 ZMYND10 DNAH1 

分 类 号：R698.2[医药卫生—泌尿科学]