今日上海
上海科研团队首次发现并命名人类新遗传疾病“卵子死亡” - 2019年04月03日
Genetic disorder linked to infertility
Shanghai researchers have discovered the phenotypes and genes responsible for some causes of infertility in women.
Researchers from Fudan University and Shanghai Jiao Tong University identified four Chinese families with inherited female infertility and found a similar phenotype that their oocytes, or female reproductive cells, died before fertilization or within 20 to 30 hours after fertilization with sperm.
To understand the genetic cause behind the phenotype, they focused on Pannexin 1, a protein in humans that is encoded by the gene PANX1.