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Variation analysis of PUM1 gene in Chinese women with primary ovarian insufficiency
- Source :
- Journal of Assisted Reproduction and Genetics. 35:727-731
- Publication Year :
- 2018
- Publisher :
- Springer Science and Business Media LLC, 2018.
-
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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s10815-017-1110-4) contains supplementary material, which is available to authorized users.
- Subjects :
- Adult
0301 basic medicine
Genotype
Single-nucleotide polymorphism
Primary Ovarian Insufficiency
Biology
Polymorphism, Single Nucleotide
03 medical and health sciences
0302 clinical medicine
Asian People
Gene Frequency
Genetic variation
Genetics
Humans
Coding region
Genetic Predisposition to Disease
Allele
Gene
Allele frequency
Genetics (clinical)
030219 obstetrics & reproductive medicine
Case-control study
RNA-Binding Proteins
Obstetrics and Gynecology
General Medicine
Prognosis
030104 developmental biology
Reproductive Medicine
Case-Control Studies
Female
Developmental Biology
Subjects
Details
- ISSN :
- 15737330 and 10580468
- Volume :
- 35
- Database :
- OpenAIRE
- Journal :
- Journal of Assisted Reproduction and Genetics
- Accession number :
- edsair.doi.dedup.....3f86613a68c46f4f6094bc5872de4f4f