title: [Detection of DPY19L2 gene mutation in a globozoospermia patient].
abstract: OBJECTIVE
  Globozoospermia is mostly associated with homozygous deletion of the DPY19L2 gene. This study aimed to investigate the DPY19L2 gene mutation in a globozoospermia patient.
  
  
  METHODS
  We observed the sperm histomorphology of a patient with globozoospermia using Wright-Giemsa's staining and transmission electron microscopy, detected the mutation of the DPY19L2 gene by PCR amplification and DNA sequencing, and compared the findings with the sequences issued in the Genbank.
  
  
  RESULTS
  Wright-Giemsa's staining showed that all the spermatozoa were round-headed and lacked the acrosome, with the head nucleus darkly, fully and densely stained. Transmission electron microscopy revealed larger round sperm heads, with an even layer of unit membrane surrounding the nuclei and dispersed cytoplasmic vacuoles but no acrosomal structure. No DPY19L2 gene mutation was found by PCR amplification and DNA sequencing.
  
  
  CONCLUSIONS
  No homozygous mutation of the DPY19L2 gene was found in the globozoospermia patient, and therefore some other disease-causing genes might be involved.
authors: PLA Research Institute of Clinical Laboratory Medicine, Nanjing General Hospital of Nanjing Military Region, Nanjing, Jiangsu 210002, China. wqyhappy2008@126.com
authors: Qiu-Yue
authors: QY
authors: Wu
authors: PLA Research Institute of Clinical Laboratory Medicine, Nanjing General Hospital of Nanjing Military Region, Nanjing, Jiangsu 210002, China.
authors: Na
authors: N
authors: Li
authors: PLA Research Institute of Clinical Laboratory Medicine, Nanjing General Hospital of Nanjing Military Region, Nanjing, Jiangsu 210002, China.
authors: Tian-Fu
authors: TF
authors: Li
authors: PLA Research Institute of Clinical Laboratory Medicine, Nanjing General Hospital of Nanjing Military Region, Nanjing, Jiangsu 210002, China.
authors: Wei-Wei
authors: WW
authors: Li
authors: PLA Research Institute of Clinical Laboratory Medicine, Nanjing General Hospital of Nanjing Military Region, Nanjing, Jiangsu 210002, China.
authors: Cui
authors: C
authors: Zhang
authors: PLA Research Institute of Clinical Laboratory Medicine, Nanjing General Hospital of Nanjing Military Region, Nanjing, Jiangsu 210002, China.
authors: Yong
authors: Y
authors: Shao
authors: PLA Research Institute of Clinical Laboratory Medicine, Nanjing General Hospital of Nanjing Military Region, Nanjing, Jiangsu 210002, China.
authors: Ying-Xia
authors: YX
authors: Cui
authors: School of Life Science, Nanjing Normal University, Nanjing, Jiangsu 210046, China.
authors: Zhi-Min
authors: ZM
authors: Yin
authors: PLA Research Institute of Clinical Laboratory Medicine, Nanjing General Hospital of Nanjing Military Region, Nanjing, Jiangsu 210002, China.
authors: Xin-Yi
authors: XY
authors: Xia
authors: Department of Cell Biology, School of Basic Medicine, Nanjing Medical University, Nanjing, Jiangsu 210029, China.
authors: Zheng-Rong
authors: ZR
authors: Li
mesh_terms: D000177:Acrosome / Q000473:pathology / Q000648:ultrastructure; D004252:DNA Mutational Analysis; D017353:Gene Deletion; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D046529:Microscopy, Electron, Transmission; D013094:Spermatozoa / Q000473:pathology / Q000648:ultrastructure
chemical_list: C511317:DPY19L2 protein, human; D008565:Membrane Proteins