nav emailalert searchbtn searchbox tablepage yinyongbenwen piczone journalimg journalInfo journalinfonormal searchdiv searchzone qikanlogo popupnotification paper paperNew
2013, 06, v.22 463-467
卵巢早衰相关基因的研究进展
基金项目(Foundation):
邮箱(Email):
DOI:
发布时间: 2013-06-15
出版时间: 2013-06-15
移动端阅读
摘要:

卵巢早衰(POF)指女性40岁以前发生绝经,伴血清卵泡刺激素(FSH)水平升高(通常>40 IU/L)及雌激素水平降低。近年来POF有发病人群年轻化、发病率增高的趋势,严重影响患者的生活质量和身心健康。但大多数患者病因和发病机制不清,属特发性POF。近年来,针对卵泡发育和POF的候选基因研究取得了很多突破性进展,本文就此进行了回顾性总结。

Abstract:

Premature ovarian failure(POF)is defined as the occurrence of amenorrhea before the age of 40 in women,accompanied with an increase of serum FSH to menopausal leveKusually over 40 IU/L), and a decrease of estradiol level.The incidence of POF is increasing but the etiology and pathogenesis are unclear in most cases.This review focuses on the breakthrough of the candidate genes involved in follicular development and POF.

参考文献

[1]Cooper AR,Baker VL,Sterling EW,et al.The time is now for a new approach to primary ovarian insufficiency[J],Fertil Steril,2011,95:1890-1897.

[2]Rebar RW.Premature ovarian failure[J],Obstet Gynecol, 2009,113:1355-1363.

[3]Skillern A,Rajkovic A.Recent developments in identifying genetic determinants of premature ovarian failure[J].Sex Dev,2008,2:228-243.

[4]Wang J,Wang B,Song J.New candidate gene POU5F1 associated with premature ovarian failure in Chinese patients [J/OL].Reprod Biomed Online,2011,22:312-316.

[5]Hunter JE,Epstein MP,Tinker SW,et al.Fragile X- associated primary ovarian insufficiency:evidence for additional genetic contributions to severity[J].Genet Epidemiol,2008,32:553-559.

[6]Sullivan SD.Welt C,Sherman S.FMR1 and the continuum of primary ovarian insufficiency[J].Semin Reprod Med,2011, 29:299-307.

[7]Nallathambi J,Mouran6 L,De Baere E,et al.A novel polyalanine expansion in FoX/2:the fiint evidence for a recessive form of the blepharophimosis syndrome(BPES) associated with ovarian dysfunction[J].Hum Genet,2007. 121:107-112.

[8]Pisarska MD,Kuo FT,Bentsi-Barnes IK.el al.I.ATS1 phosphorylates forkhead L2 and regulates its transcriptional activity[J].Am J Physiol Endocrinol Metab,2010,299: 101-109.

[9]Simpon JL.Genetic and phenotypic heterogeneity in ovarian failure:overview of selected candidate genes[J].Ann N Y Acad Sci,2008,1135:146-154.

[10]Johnson J,Canning J.Kaneko T,et al.Germline stem cells and follicular renewal in the postnatal mammalian ovary[J], Nature,2004,428:145-150.

[11]Bouilly J.Bachelot A.Broutin I,et al.Novel NOBOX loss-of-function mutations account for 6.2%of cases in a large primary ovarian insufficiency cohort[J].Hum Mutat.2011, 32:1108-1113.

[12]Qin Y,Shi Y.Zhao Y,et al.Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure[J].Fertil Steril,2009,91:1507-1509.

[13]Sato Y,Cheng Y,Kawamura K,et al.C-type natriuretic Peptide stimulates ovarian follicle development[J].Mol Endocrinol.2012,26:1158-1166.

[14]Zhao H,Chen ZJ,Qin Y,et al.Transcription factor FTG1.A is mutated in patients with premature ovarian failure[J].Am J Hum Genet,2008,82:1342-1348.

[15]Wang B,Li L,Ni F,et al.Mutational analysis of SAL-Like 4 (SALL4)in Han Chinese women with premature ovarian failure[J].Mol Hum Reprod,2009,15:557-562.

[16]Adhikari D,Zheng W.Shen Y,et al.Tsc/mTORCl signaling in oocytes governs the quiescence and activation of primordial follicles[J].Hum Mol Genet,2010,19:397-4 10.

[17]Reddy P,Liu L,Adhikari D,et al.Oocyte-specific deletion of Pten causes premature activation of the primordial follicle pool[J].Science,2008,319:611-613.

[18]Shimizu Y,Kimura F,Takebayashi K,et al.Mutational analysis of the PTEN gene in women with premature ovarian failure[J].Acta Obstet Gynecol Scand,2009,88:824-825.

[19]Otsuka F.McTavish K J.Shimasaki S.Integral role of GDF-9 and BMP-15 in ovarian function[J].Mol Reprod Dev,2011, 78:9-21.

[20]Persani L,Rossetti R.Cacciatore C.Genes involved in human premature ovarian failure[J].J Mol Endocrinol,2010,45:257- 279.

[21]Prakash GJ,Ravi Kanth VV,Shelling AN,et al.Mutational analysis of inhibin alpha gene revealed three novel variations in Indian women with premature ovarian failure[J].Fertil Steril,2010,94:90-98.

[22]Wang J,Wang B.Song J,et al.New candidate gene POU5FI associated with premature ovarian failure in Chinese patients [J/OL].Reprod Biomed Online,2011,22:312-316.

[23]Zheng P,Dean J.Oocyte-specific genes affect folliculogenesis, fertilization,and early development[J],Semin Reprod Med, 2007.25:243-251.

[24]Knauff EA,Franke L,van Es MA,et al.Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene[J].Hum Reprod,2009,24:2372.

[25]Wang B,Suo P,Chen B,et al.Haplotype analysis of chemokine CXCL12 polymorphisms and susceptibility to premature ovarian failure in Chinese women[J].Hum Reprod,2011,26:950-954.

[26]Vinci G,Christin-Maitre S,Pasquier M,et al.FOXO3a variants in patients with premature ovarian failure[J].Clin Endocrinol(Oxf),2008,68:495-497.

[27]Wang B.Mu Y,Ni F,et al.Analysis of FOX03 mutation in 114 Chinese women with premature ovarian failure[J/OL]. Reprod Biomed online,2010,20:499-503.

[28]Schuh-Huerta SM,Johnson NA,Rosen MP,et al.Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women[J].Hum Reprod,2012,27:594-608.

[29]Liu L,Tan R,Liu J,et al.Mutational analysis of the FST gene in Chinese women with idiopathic premature ovarian failure [J].Climacteric,2012,15:1-4.

[30]Di Pasquale E,Rossetti R.Marozzi A,et al.Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure[J].J Clin Endocrinol Metab,2006,91:1976-1979.

[31]Jiang R,Dong J.Joo J,et al.Simple strategies for haplotype analysis of the X chromosome with application to age-related macular degeneration[J].Eur Hum Genet,2011,19:801-806.

[32]Lacombe A,Lee H,Zahed L,et al.Disruption of PoFI B binding to nonmuscle actin filaments is associated with premature ovarian failure[J].Am J Hum Genet,2006,79:113-119.

[33]Cha KY,Lee SH,Chung HM,et al.Quantification of mitochondrial DNA using real-time polymerase chain reaction in patients with premature ovarian failure[J].Fertil Steril, 2005,84:1712-1718.

[34]Bonomi M,Somigliana E,Cacciatore C,et al.Blood cell mitochondrial DNA content and premature ovarian aging [OL].PLoS One,2012,7:e42423.

基本信息:

中图分类号:R711.75

引用信息:

[1]王春庆,田秦杰.卵巢早衰相关基因的研究进展[J].生殖医学杂志,2013,22(06):463-467.

发布时间:

2013-06-15

出版时间:

2013-06-15

检 索 高级检索

引用

GB/T 7714-2015 格式引文
MLA格式引文
APA格式引文