期刊
REPRODUCTIVE BIOMEDICINE ONLINE
卷 22, 期 3, 页码 312-316出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.rbmo.2010.11.008
关键词
mutation; polymorphism; POU class 5 homeobox 1; premature ovarian failure
资金
- National Basic Research Program of China [2010CB945100, 2007CB947400]
- National Natural Science Foundation of China [30973197]
- National Science and Technology Pillar Program of China [2008BAH24B05]
- National Infrastructure Program of Chinese Genetic Resources [2006DKA21300]
Premature ovarian failure (POF) is defined as a cessation of ovarian function in women before the age of 40 years. POU5F1 has a critical role in regulating pluripotency in embryonic development and POU5F1 transcription factor is down-regulated more than 30-fold in the POF candidate gene Nobox knockout ovaries. In order to identify the potential correlation between POU5F1 and the development of POF, the exon regions of POU5F1 were amplified and sequenced in 115 POF patients and 149 healthy controls. One non-synonymous variant of POU5F1 (c. C37A, p. Pro13Thr) was identified and confirmed in one of the POF patients. The substitution replacing a hydrophobic amino acid, proline, with a hydrophilic amino acid, threonine. As far as is known, the present study is the first to identify a potential association between POU5F1 and the development of POF. (C) 2011, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.
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