Journal
REPRODUCTIVE BIOMEDICINE ONLINE
Volume 29, Issue 6, Pages 752-755Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.rbmo.2014.08.004
Keywords
mutation; TOX3; polycystic ovary syndrome; single-nucleotide polymorphism
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Funding
- National Basic Research Program of China (973 program) [2012CB944700]
- National Natural Science Foundation of China [81000236, 81300459]
- China Postdoctoral Science Foundation [2012M520909]
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A previous genome-wide association study of polycystic ovary syndrome (PCOS) identified several susceptibility loci. TOX3 is the nearest gene to signal rs4784165. In the present study, all exons and exon-intron boundaries of TOX3 were amplified and sequenced in 200 Chinese women with PCOS. A 3-bp nucleotide deletion of CAG repeat and two known single nucleotide polymorphisms were identified. No plausible pathogenic mutations were detected. The results suggest that mutations in TOX3 are not common in Chinese Han women with PCOS. (C) 2014 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.
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