[1]王红梅,李文悌,庄春波,等.圆头精子症患者精子形态观察及全外显子测序分析[J].郑州大学学报(医学版),2021,(01):86-89.
 WANG Hongmei,LI Wenti,ZHUANG Chunbo,et al.Sperm morphology observation and gene mutation detection in a patient with globozoospermia[J].JOURNAL OF ZHENGZHOU UNIVERSITY(MEDICAL SCIENCES),2021,(01):86-89.
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圆头精子症患者精子形态观察及全外显子测序分析()
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《郑州大学学报(医学版)》[ISSN:1671-6825/CN:41-1340/R]

卷:
期数:
2021年01期
页码:
86-89
栏目:
应用研究
出版日期:
2021-01-20

文章信息/Info

Title:
Sperm morphology observation and gene mutation detection in a patient with globozoospermia
作者:
王红梅李文悌庄春波张世杰李兴武
郑州大学第一附属医院检验科 郑州 450052
Author(s):
WANG HongmeiLI WentiZHUANG ChunboZHANG ShijieLI Xingwu
Department of Clinical Laboratory, the First Affiliated Hospital,Zhengzhou University,Zhengzhou 450052
关键词:
不育症 圆头精子 全外显子测序 DPY19L2 ZMYND10 DNAH1
Keywords:
infertility round-headed sperm whole exome sequencing DPY19L2 ZMYND10 DNAH1
分类号:
R698+.2
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2 μL,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。
Abstract:
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.

参考文献/References:

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备注/Memo

备注/Memo:
【作者简介】李兴武,通信作者,男,1963年9月生,硕士,主任技师,研究方向:男性不育,E-mail:lllixingwu@163.com
更新日期/Last Update: 2021-02-15