| Literature DB >> 29297114 |
Wei Luo1,2,3,4, Hanni Ke1,2,3,4, Ran Liu1,2,3,4, Yingying Qin1,2,3,4, Winifred Mak5, Jinlong Ma1,2,3,4, Shidou Zhao6,7,8,9, Zi-Jiang Chen1,2,3,4,10,11.
Abstract
Accumulating evidence has indicated that the genes involved in meiosis are highly correlated with ovarian function. Pumilio 1 (PUM1) is a RNA-binding protein which is involved in the meiotic process. It has been reported that the Pum1 knockout female mice displayed subfertility due to the decrease in primordial follicle pool. The aim of our study is to investigate whether variants of the PUM1 gene are responsible for primary ovarian insufficiency (POI) in Chinese women. We analyzed coding sequence and untranslated regions of the PUM1 gene in 196 Han Chinese women with non-syndromic POI and 192 controls. Seven novel variants were identified, but one of them was synonymous and six were intronic. Besides, seven known single-nucleotide polymorphisms (SNPs) were found, and there were no significant differences in genotype and allele frequencies of the SNPs between patients and controls. The results suggest that the variants in PUM1 may not contribute to POI in Han Chinese women.Entities:
Keywords: Meiosis; PUM1; Primary ovarian insufficiency; Variant screening
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Year: 2018 PMID： 29297114 PMCID： PMC5949103 DOI： 10.1007/s10815-017-1110-4
Source DB: PubMed Journal: J Assist Reprod Genet ISSN： 1058-0468 Impact factor: 3.412