2例圆头精子症患者中DPY19L2基因突变的检测
[Detection of DPY19L2 gene mutation in 2 cases of globozoospermia].
作者信息
Luo Tao, Zhi Hui-Jie, Wu Qiu-Yue, Li Wei-Wei, Zhu Pei-Ran, Jiang Wei-Jun, Zhao Guo-Guo, Wang Fan, Xia Xin-Yi, Yao Qin
机构信息
Research Institute of Life Sciences, Jiangsu University, Zhenjiang, Jiangsu 212003, China.
School of Life Sciences, Nanjing Normal University, Nanjing, Jiangsu 210046, China.
出版信息
Zhonghua Nan Ke Xue. 2020 Jul;26(7):620-624.
OBJECTIVE
To investigate the mutation of the DPY19L2 gene in patients with globozoospermia.
METHODS
We collected the clinical data and peripheral blood from 2 patients with globozoospermia and screened for mutation of the DPY19L2 gene by PCR amplification and DNA sequencing technology.
RESULTS
The sperm from the 2 globozoospermia patients were round morphologically under the light microscope, with deeply stained nuclei but no acrosome. Electron microscopy showed the sperm with a large round head but no acrosomal structure, the nuclei enveloped by a single layer of membrane and the cytoplasm dispersed. PCR amplification revealed homozygous deletion of Exon 5, Exon6 and Exon15 in the DPY19L2 gene in both the patients.
CONCLUSIONS
This study proved that the homozygous mutation of DPY19L2 could lead to globozoospermia, which has an important significance for researches on the molecular mechanisms and gene diagnosis of the disease as well as for clinicians in genetic counseling and treatment.
目的
研究圆头精子症患者中DPY19L2基因的突变情况。
方法
收集2例圆头精子症患者的临床资料及外周血，采用聚合酶链反应（PCR）扩增及DNA测序技术筛查DPY19L2基因的突变情况。
结果
2例圆头精子症患者的精子在光学显微镜下形态呈圆形，细胞核染色深但无顶体。电子显微镜显示精子头部大而圆但无顶体结构，细胞核被单层膜包绕，细胞质分散。PCR扩增显示2例患者的DPY19L2基因均存在第5外显子、第6外显子和第15外显子的纯合缺失。
结论
本研究证明DPY19L2基因的纯合突变可导致圆头精子症，这对该病的分子机制及基因诊断研究以及临床医生进行遗传咨询和治疗具有重要意义。
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