Mutations in DMC1 are not responsible for premature ovarian failure in Chinese women

被引：8
作者：
Wang, Huidan [1 ]
Sun, Mei [1 ]
Qin, Yingying [1 ]
Xia, Tingting [2 ]
Ma, Jinlong [1 ]
Chen, Zi-Jiang [1 ]
机构：
[1] Shandong Univ, Prov Hosp,Key Lab Reprod Endocrinol, Minist Educ,Ctr Reprod Med,Shandong Prov Key Lab, Natl Res Ctr Assisted Reprod Technol & Reprod Gen, Jinan 250021, Peoples R China
[2] Sun Yat Sen Univ Med Sci, Affiliated Hosp 1, Guangzhou 510080, Guangdong, Peoples R China
来源：
REPRODUCTIVE BIOMEDICINE ONLINE | 2013年 / 26卷 / 02期
基金：
中国国家自然科学基金;
关键词：
DMC1; mutation; premature ovarian failure; single-nucleotide polymorphism; FOLLICLE-STIMULATING-HORMONE; CHROMOSOME SYNAPSIS; BETA-SUBUNIT; RECEPTOR; GENE; INSUFFICIENCY; EXPRESSION; RESISTANCE; MEIOSIS; HOMOLOG;
D O I：
10.1016/j.rbmo.2012.10.016
中图分类号：
R71 [妇产科学];
学科分类号：
100211 ;
摘要：
The coding region of the disrupted meiotic cDNA gene (DMC1) was examined in 192 Chinese women with premature ovarian failure. Two known single-nucleotide polymorphisms, c.8632C>T in intron 4 and c.32377G>C in intron 10, were identified. The results suggest that mutations in the coding sequence of DMC1 are not associated with premature ovarian failure in Chinese women. RBMOnline (C) 2012, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.
引用
收藏
页码：175 / 178
页数：4
相关论文
共 32 条
[1]  
Andrew N.S., 2010, REPRODUCTION, V140, P633
[2]   NR5A1 and ovarian failure [J].
Bashamboo, Anu ;
Ravel, Celia ;
Brauner, Raja ;
McElreavey, Ken .
M S-MEDECINE SCIENCES, 2009, 25 (10) :809-813
[3]   DMC1 - A MEIOSIS-SPECIFIC YEAST HOMOLOG OF ESCHERICHIA-COLI RECA REQUIRED FOR RECOMBINATION, SYNAPTONEMAL COMPLEX-FORMATION, AND CELL-CYCLE PROGRESSION [J].
BISHOP, DK ;
PARK, D ;
XU, LZ ;
KLECKNER, N .
CELL, 1992, 69 (03) :439-456
[4]   Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation [J].
Bodega, B ;
Bione, S ;
Dalprà, L ;
Toniolo, D ;
Ornaghi, F ;
Vegetti, W ;
Ginelli, E ;
Marozzi, A .
HUMAN REPRODUCTION, 2006, 21 (04) :952-957
[5]  
Camats N., 2010, ANN ENDOCRINOL-PARIS, V71, P177
[6]  
COULAM CB, 1986, OBSTET GYNECOL, V67, P604
[7]   Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI) [J].
Janse, Femi ;
de With, Larissa M. ;
Duran, Karen J. ;
Kloosterman, Wigard P. ;
Goverde, Angelique J. ;
Lambalk, Cornelius B. ;
Laven, Joop S. E. ;
Fauser, Bart C. J. M. ;
Giltay, Jacques C. .
FERTILITY AND STERILITY, 2012, 97 (01) :141-U205
[8]   Premature ovarian failure [J].
Kalantaridou, SN ;
Davis, SR ;
Nelson, LM .
ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA, 1998, 27 (04) :989-+
[9]   A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor [J].
Latronico, AC ;
Chai, YH ;
Arnhold, IJP ;
Liu, XB ;
Mendonca, BB ;
Segaloff, DL .
MOLECULAR ENDOCRINOLOGY, 1998, 12 (03) :442-450
[10]   Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene [J].
Latronico, AC ;
Anasti, J ;
Arnhold, IJP ;
Rapaport, R ;
Mendonca, BB ;
Bloise, W ;
Castro, M ;
Tsigos, C ;
Chrousos, GP .
NEW ENGLAND JOURNAL OF MEDICINE, 1996, 334 (08) :507-512
1234