回族及维吾尔族圆头精子症患者的基因诊断、精子超微结构观察和辅助生殖结局分析  

Genetic diagnosis, observation of sperm ultrastructure and outcome analysis for assisted reproduction in Hui and Uyghur patients with globozoospermia

作　　者：刘翛然[1] 武爽[1] 韩锐[1,2] LIU Xiaoran;WU Shuang;HAN Rui(Department of Prenatal Diagnosis,Reproductive Medicine Centre,the First Afflated Hospital of Xinjiang Medical University,Urumqi 830054,Xinjiang;Xinjiang Reproductive Immunity Clinical Medical Research Center,Urumqi 830054,Xinjiang,China)

机构地区：[1]新疆医科大学第一附属医院生殖医学中心产前诊断科,乌鲁木齐830054 [2]新疆生殖免疫临床医学研究中心,乌鲁木齐830054

出　　处：《临床检验杂志》2024年第2期93-99,共7页Chinese Journal of Clinical Laboratory Science

基　　金：新疆维吾尔自治区自然科学基金面上项目(2021D01C297)。

摘　　要：目的探讨2例少数民族(P1回族、P2维吾尔族)圆头精子症患者的临床表型、精子特点、遗传学病因以及辅助生殖结局。方法分析2例少数民族圆头精子症患者的临床资料和各种精液检查参数,观察精子超微结构,并利用全外显子检测技术和qPCR检测分析患者的遗传学病因,采用卵胞质内单精子注射联合卵母细胞激活技术(ICSI+AOA)进行辅助生殖治疗,并观察其助孕结局。结果2例患者均存在DPY19L2基因109681 bp纯合缺失,其中P2患者的DPY19L2基因缺失来源于近亲结婚的父母。P1患者精子活力低下,精子DNA碎片率高,精子形态为100%圆头精子,电镜下发现精子顶体缺失,同时存在质膜、线粒体和微管等超微结构缺陷;P2患者精子活力及精子DNA碎片率均正常,精子形态为100%圆头精子,电镜下观察发现精子主要缺陷为头部小而圆伴随顶体缺失,质膜、线粒体和微管等细胞器结构损伤与超微结构缺陷少见。2例患者夫妇均接受ICSI+AOA助孕,ICSI受精率P1患者夫妇为62.5%,P2患者夫妇为75%,均成功获得临床妊娠。结论DPY19L2基因异常在不同民族背景的圆头精子症患者中都是主要的致病遗传学原因。圆头精子可同时存在质膜、线粒体和微管等细胞器结构损伤与超微结构缺陷。ICSI+AOA是圆头精子症患者的有效辅助生殖治疗。Objective To investigate the clinical phenotype,sperm characteristics,genetic etiology and the outcomes of assisted reproductive technology of 2 minority patients(P1 Hui and P2 Uyghur)with globozoospermia.Methods The clinical data and various parameters of semen examination in the 2 minority patients with globozoospermia were analyzed.The ultrastructure of their sperms was observed,and the genetic etiology of the patients was analyzed by whole exome sequencing(WES)and qPCR.Intracytoplasmic sperm injection(ICSI)combined with artificial oocyte activation(A0A)were applied for assisted reproduction thyrapy.The outcomes of assisted reproduction in the two couples were observed.Results Homozygous 109681 bp deletion in DPY19I2 gene was found in both the patients.The homozygous deletion of DPY19L2 gene in P2 patient came from his inbred parents.Low sperm motility and high sperm DNA fragmentation rate were observed in the P1 patient,the and the rate of round-headed sperm was 100%in morphology.The absence of sperm acrosome and ultrastructural defects of plasma membrane,mitochondria and microtubules were found under the electron microscope.In the P2 patient,sperm motility and sperm DNA fragmentation rate patient were normal,and the sperm morphology was 100%round-headed sperm.Under the electron microscope,the main defects of sperm were small and round head with acrosomal absence,structural damage,but the ultrastructural defects of organelles were rare,such as plasma membrane,mitochondria and microtubules.Both couples of the two patients received ICSI+AOA for assisted pregnancy,and the ICSI fertilization rate was 62.5%for P1 patient and 75%for P2 patient.Both the patients successfully obtained clinical pregnancy.Conclusion The abnormal DPYI9L2 gene is the main genetic cause in the globozoospemnia patients with diferent ethnic backgrounds.Both structural damage and ultrastructural defects of organelles such as plasma membrane,mitochondrial and microtubule damage could be found in globozoospermia.ICSI combined with AOA should b

关 键 词：少数民族 圆头精子症 DPY19L2 卵胞质内单精子注射 卵母细胞激活技术 

分 类 号：R698.2[医药卫生—泌尿科学] R321.1[医药卫生—外科学] R321-33[医药卫生—临床医学] R446