Analysis of progesterone receptor membrane component 1 mutation in Han Chinese women with premature ovarian failure

作者：Wang Jiu Ling; Li Shu Ling; Qin Ying Ying; Chen Zi Jiang^*

来源：Reproductive BioMedicine Online, 2014, 29(5): 640-643.

DOI：10.1016/j.rbmo.2014.08.001

• mutation screening
• premature ovarian failure (POF)
• progesterone receptor membrane component 1 (PGRMC1)

The gene PGRMC1 is highly expressed in the granulose and luteal cells of rodent and primate ovaries. Its role in antiapoptosis and regulating cell-cycle progression suggests a role in regulating follicle growth. The hypothesis is supported by the study in mice and studies in Sweden. In this study, the coding exons of PGRMC1 were sequenced among 196 Chinese women with premature ovarian failure (POF) and 200 controls, and one novel missense mutation was identified (C. 556C>T, p. Pro186Ser) in the POF group and one novel SNP (C.533C>T, p. Trh177Ile) was identified in both groups. The mutation is not considered causative because protein prediction did not indicate a deleterious effect. It is concluded that coding mutations of PGRMC1 do not seem to be a common cause of the disease in Han Chinese women. Future studies in larger cohorts from other ethnic groups are necessary to establish the role of PGRMC1 in POF.

• 出版日期2014-11
• 单位山东大学