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[Advances in the molecular genetic studies of acephalic spermatozoa syndrome]. | LitMetric

[Advances in the molecular genetic studies of acephalic spermatozoa syndrome].

Zhonghua Nan Ke Xue

Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.

Published: September 2019

AI Article Synopsis

  • * Recent advances in genetic research have identified four genes linked to ASS: SUN5, PMFBP1, TSGA10, and BRDT, shedding light on the disease's underlying causes.
  • * Understanding the genetic mechanisms of ASS paves the way for better molecular diagnosis and improvements in assisted reproductive technologies.

Article Abstract

Acephalic spermatozoa syndrome (ASS) is characterized by a predominance of headless spermatozoa with abnormal head-tail junction in the ejaculate, which causes severe male infertility. The pathogenic mechanism of ASS remained unclarified for a long time until recent identification of the four ASS-associated genes SUN5, PMFBP1, TSGA10, and BRDT and their mutations due to the development of high-throughput sequencing technology. This review summarizes the advances in the genetic studies of ASS, focusing on its pathogenic molecular mechanisms, which provide an important basis for the molecular diagnosis of the disease as well as for assisted reproductive technology.

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