• PMID: 24341097
• Gene Name: DPY19L2
• Condition: Globozoospermia
• Association: Not associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Globozoospermia

[Detection of DPY19L2 gene mutation in a globozoospermia patient]

Wu QY, Li N, Li TF, Li WW, Zhang C, Shao Y, Cui YX, Yin ZM, Xia XY, Li ZR.

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. CONCLUSION: No homozygous mutation of the DPY19L2 gene was found in the globozoospermia patient, and therefore some other disease-causing genes might be involved. FAU - Wu, Qiu-Yue AU - Wu QY AD - PLA Research Institute of Clinical Laboratory Medicine, Nanjing General Hospital of Nanjing Military Region, Nanjing, Jiangsu 210002, China. wqyhappy2008@126.com FAU - Li, Na AU - Li N AD - PLA Research Institute of Clinical Laboratory Medicine, Nanjing General Hospital of Nanjing Military Region, Nanjing, Jiangsu 210002, China. FAU - Li, Tian-Fu AU - Li TF AD - PLA Research Institute of Clinical Laboratory Medicine, Nanjing General Hospital of Nanjing Military Region, Nanjing, Jiangsu 210002, China. FAU - Li, Wei-Wei AU - Li WW AD - PLA Research Institute of Clinical Laboratory Medicine, Nanjing General Hospital of Nanjing Military Region, Nanjing, Jiangsu 210002, China. FAU - Zhang, Cui AU - Zhang C AD - PLA Research Institute of Clinical Laboratory Medicine, Nanjing General Hospital of Nanjing Military Region, Nanjing, Jiangsu 210002, China. FAU - Shao, Yong AU - Shao Y AD - PLA Research Institute of Clinical Laboratory Medicine, Nanjing General Hospital of Nanjing Military Region, Nanjing, Jiangsu 210002, China. FAU - Cui, Ying-Xia AU - Cui YX AD - PLA Research Institute of Clinical Laboratory Medicine, Nanjing General Hospital of Nanjing Military Region, Nanjing, Jiangsu 210002, China. FAU - Yin, Zhi-Min AU - Yin ZM AD - School of Life Science, Nanjing Normal University, Nanjing, Jiangsu 210046, China. FAU - Xia, Xin-Yi AU - Xia XY AD - PLA Research Institute of Clinical Laboratory Medicine, Nanjing General Hospital of Nanjing Military Region, Nanjing, Jiangsu 210002, China.