Variation analysis of PRIM1 gene in Chinese patients with primary ovarian insufficiency
- 1 November 2016
- journal article
- research article
- Published by Elsevier BV in Reproductive BioMedicine Online
- Vol. 33 (5), 587-591
- https://doi.org/10.1016/j.rbmo.2016.08.017
Abstract
Insights into common genetic susceptibility between primary ovarian insufficiency (POI) and natural or early menopause have delivered an innovative way of assessing the genetic mechanisms involved in POI. PRIM1 plays a crucial role in DNA replication by synthesizing RNA primers for Okazaki fragments. It is closely associated with age at natural menopause, early menopause and POI in European women. In this study, we aimed to investigate whether mutations in PRIM1 contribute to POI in Chinese women. All exons and exon-intron boundaries of PRIM1 gene were sequenced in 192 Han Chinese women with non-syndromic POI. No plausible mutations were identified. The results suggest that the perturbations in PRIM1 gene are not a common explanation for POI in Chinese women.Keywords
Funding Information
- National Basic Research Program of China (2012CB944700)
- State Key Program of National Natural Science Foundation of China (81430029)
- National Natural Science Foundation of China (81571505, 81522018, 81270662, 81471509)
This publication has 18 references indexed in Scilit:
- Genetics of Early and Normal MenopauseSeminars in Reproductive Medicine, 2015
- MenopauseNature Reviews Disease Primers, 2015
- The ATM Signaling Cascade Promotes Recombination-Dependent Pachytene Arrest in Mouse SpermatocytesPLoS Genetics, 2015
- Meta-analysis of loci associated with age at natural menopause in African-American womenHuman Molecular Genetics, 2014
- Replication of genetic loci for ages at menarche and menopause in the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) studyHuman Reproduction, 2013
- A Conserved Motif in the C-terminal Tail of DNA Polymerase α Tethers Primase to the Eukaryotic ReplisomePublished by Elsevier BV ,2012
- The structural determinants of checkpoint activationGenes & Development, 2007
- Premature ovarian failureOrphanet Journal of Rare Diseases, 2006
- Activation of the DNA Replication Checkpoint Through RNA Synthesis by PrimaseScience, 2000
- Mapping of the Human DNA Primase 1 (PRIM1) to Chromosome 12q13Genomics, 1997