圆头精子症患者的遗传学检测与成功辅助育孕  

Globozoospermia Patient Treated by Intracytoplasmic Sperm Injection and Genetic Detection

作　　者：郑灵燕[1] 袁萍[1] 张宁峰[1] 梁中锟[1] 王文军[1] 张清学[1] 杨冬梓[1] 

机构地区：[1]中山大学孙逸仙纪念医院生殖中心,广东广州510120

出　　处：《中山大学学报（医学科学版）》2015年第6期955-960,共6页Journal of Sun Yat-Sen University:Medical Sciences

基　　金：中央高校基本科研业务费专项资金(13ykpy29)

摘　　要：【目的】分析圆头精子症患者的遗传学发病机制。【方法】回顾分析1例圆头精子症患者,对其进行多种遗传学方法的检测,包括染色体检查、Y染色体微缺失基因检测及通过array-CGH芯片技术和Sanger测序筛查候选基因DPY19L2、PICK1、SPATA16。【结果】该患者在我中心行两个卵胞浆内单精子显微注射(ICSI)周期后,其妻孕足月剖宫产一对异卵双胞胎女儿。患者染色体核型为46,XY、Y染色体微缺失基因检测未见异常,array-CGH芯片检测排除了DPY19L2、SPATA16和PICK1基因及其他该芯片所涵盖区域的100kb以上的片段重复或缺失。Sanger测序PICK1、SPATA16基因也未发现点突变和小片段插入缺失等病理性改变。【结论】圆头精子症患者可通过ICSI方式获得健康后代,本研究排除了已知的候选基因DPY19L2、PICK1、SPATA16与该圆头精子症患者的致病相关,可能存在其他致病基因。【Objective】 This study was aimed to investigate the genetic etiology in a globozoospermia patient. 【Method】 The globozoospermia patient was performed ICSI in our center. We analyze the genetic etiology through karyotype analysis, detection of AZF gene microdeletion in Y chromosome, array-based comparative genomic hybridization（array-CGH） and Sanger sequence in PICK1 and SPATA16 gene. 【Result】 His wife had successfully delivered a dizygotict win sister after 2 cycles of ICSI（intracytoplasmic sperm injection）. No abnormalities were found in the genetic detection. 【Conclusion】 The genetic etiology was not found in the globozoospermia patient and therefore some other disease-causing genes might be involved.

关 键 词：圆头精子 卵胞浆内单精子显微注射 DPY19L2 PICK1 SPATA16 

分 类 号：R715.5[医药卫生—妇产科学]