[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.
点击复制

圆头精子症患者精子形态观察及全外显子测序分析()
分享到：

《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 Hongmei; LI Wenti; ZHUANG Chunbo; ZHANG Shijie; LI 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:

[1] ESKANDARI N, TAVALAEE M, ZOHRABI D, et al.Association between total globozoospermia and sperm chromatin defects[J].Andrologia,2018,50(2):e12843
[2] KAMALI-DOLAT ABADI M, TAVALAEE M, SHAHVERDI A, et al.Evaluation of plcζ and pawp expression in globozoospermic individuals[J].Cell J,2016,18(3):438
[3] 付璐璐,高利伟,张静文.圆头精子症相关致病基因研究进展[J].中华男科学杂志,2014,20(8):743
FU LL,GAO LW,ZHANG JW.Pathogenic mechanism and reproductive outcomes in globozoospermia: an update[J].National Journal of Andrology,2014,20(8):743
[4] 万磊,安丽梅.圆头精子症的分子遗传学研究进展[J].中华男科学杂志,2011,17(10):935
WAN L,AN LM.Molecular genetics of globozoospermia: an update[J].National Journal of Andrology,2011,17(10):935
[5] FUJIHARA Y, OJI A, LARASATI T, et al.Human globozoospermia-related gene spata16 is required for sperm formation revealed by CRISPR/Cas9-mediated mouse models[J].Int J Mol Sci,2017,18(10):2208
[6] SHANG YL, ZHU FX, YAN J, et al.Novel DPY19L2 variants in globozoospermic patients and the overcoming this male infertility[J].Asian J Androl,2019,21(2):183
[7] ABDELHEDI F, CHALAS C, PETIT JM, et al.Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients[J].J Assist Reprod Genet,2019,36(1):69
[8] 安娜,吴银玲,葛少钦.圆头精子超微结构研究[J].医学理论与实践,2017,30(20):2978
AN N,WU YL,GE SQ.Study on ultrastructure of sperm from globozoospermia[J].The Journal of Medical Theory and Practice,2017,30(20):2978
[9] CHIANESE C, FINO MG, RIERA ESCAMILLA A, et al.Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia[J].Andrology,2015,3(2):203
[10]KOSCINSKI I, ELINATI E, FOSSARD C, et al.DPY19L2 deletion as a major cause of globozoospermia[J].Am J Hum Genet,2011,88(3):344
[11]ALVAREZ SEDC, RAWE VY, CHEMES HE.Acrosomal biogenesis in human globozoospermia: immunocytochemical, ultrastructural and proteomic studies[J].Hum Reprod,2012,27(7):1912
[12]ELINATI E, KUENTZ P, REDIN C, et al.Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots[J].Hum Mol Genet,2012,21(16):3695
[13]BEN KHELIFA M, COUTTON C, ZOUARI R, et al.Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella[J].Am J Hum Genet, 2014,94(1):95
[14]MOORE DJ, ONOUFRIADIS A, SHOEMARK A, et al.Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia[J].Am J Hum Genet, 2013,93(2):346

相似文献/References:

[1]王瑞#,张卫星,韩广业,等.先天性双侧输精管缺如患者精浆生化指标测定*[J].郑州大学学报(医学版),2009,(03):493.
　WANG Rui,ZHANG Weixing,HAN Guangye,et al.Determination of semen biochemical indicators in infertile males with congenital bilateral absence of vas deferens[J].JOURNAL OF ZHENGZHOU UNIVERSITY(MEDICAL SCIENCES),2009,(01):493.
[2]刘克锋),王瑞),李锐),等.不育症患者精浆果糖水平测定*[J].郑州大学学报(医学版),2009,(03):495.
　LIU Kefeng),WANG Rui),LI Rui),et al.Determination of seminal fructose in patients with infertility[J].JOURNAL OF ZHENGZHOU UNIVERSITY(MEDICAL SCIENCES),2009,(01):495.

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