[Detection of DPY19L2 gene mutation in 2 cases of globozoospermia].

Abstract

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.

• Authors: Tao Luo, Hui-Jie Zhi, Qiu-Yue Wu, Wei-Wei Li, Pei-Ran Zhu, Wei-Jun Jiang, Guo-Guo Zhao, Fan Wang, Xin-Yi Xia, Qin Yao
• Journal: Zhonghua nan ke xue = National journal of andrology (Zhonghua Nan Ke Xue) Vol. 26 Issue 7 Pg. 620-624 (Jul 2020) ISSN: 1009-3591 [Print] China
• PMID: 33377718 (Publication Type: Journal Article)

Chemical References

• DPY19L2 protein, human
• Membrane Proteins

Topics

• Homozygote
• Humans
• Male
• Membrane Proteins (genetics)
• Mutation
• Sequence Deletion
• Spermatozoa
• Teratozoospermia (genetics)