Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers

被引：128

作者：

Ennis, S

Ward, D

Murray, A

机构：

[1] Univ Southampton, Div Human Genet, Genet Epidemiol & Bioinformat Grp, Southampton, Hants, England

[2] Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2006年 / 14卷 / 02期

基金：

英国惠康基金;

关键词：

FMR1; permutation; premature ovarian failure;

D O I：

10.1038/sj.ejhg.5201510

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

FMR1 premutations are known to be associated with premature ovarian failure (POF), but the underlying mechanism is unknown. We present evidence for a nonlinear association between menopause age and premutation size suggesting that premutations in the mid-size range are at greatest risk for POF, while larger premutations are at lower risk.

引用

收藏

页码：253 / 255

页数：3

相关论文

共 11 条

[1]

Allingham-Hawkins SJ, 1999, AM J MED GENET, V83, P322, DOI 10.1002/(SICI)1096-8628(19990402)83:4<322::AID-AJMG17>3.0.CO

[2]

2-B

[3] Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element [J].

Beilina, A ;

Tassone, F ;

Schwartz, PH ;

Sahota, P ;

Hagerman, PJ .

HUMAN MOLECULAR GENETICS, 2004, 13 (05) :543-549

[4] VARIATION OF THE CGG REPEAT AT THE FRAGILE-X SITE RESULTS IN GENETIC INSTABILITY - RESOLUTION OF THE SHERMAN PARADOX [J].

FU, YH ;

KUHL, DPA ;

PIZZUTI, A ;

PIERETTI, M ;

SUTCLIFFE, JS ;

RICHARDS, S ;

VERKERK, AJMH ;

HOLDEN, JJA ;

FENWICK, RG ;

WARREN, ST ;

OOSTRA, BA ;

NELSON, DL ;

CASKEY, CT .

CELL, 1991, 67 (06) :1047-1058

[5] Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation [J].

Hagerman, RJ ;

Leavitt, BR ;

Farzin, F ;

Jacquemont, S ;

Greco, CM ;

Brunberg, JA ;

Tassone, F ;

Hessl, D ;

Harris, SW ;

Zhang, L ;

Jardini, T ;

Gane, LW ;

Ferranti, J ;

Ruiz, L ;

Leehey, MA ;

Grigsby, J ;

Hagerman, PJ .

AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (05) :1051-1056

[6] Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X [J].

Hagerman, RJ ;

Leehey, M ;

Heinrichs, W ;

Tassone, F ;

Wilson, R ;

Hills, J ;

Grigsby, J ;

Gage, B ;

Hagerman, PJ .

NEUROLOGY, 2001, 57 (01) :127-130

[7] Studies of FRAXA and FRAXE in women with premature ovarian failure [J].

Murray, A ;

Webb, J ;

Grimley, S ;

Conway, G ;

Jacobs, P .

JOURNAL OF MEDICAL GENETICS, 1998, 35 (08) :637-640

[8] Reproductive and menstrual history of females with fragile X expansions [J].

Murray, A ;

Ennis, S ;

MacSwiney, F ;

Webb, J ;

Morton, NE .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (04) :247-252

[9] Association of FMR1 repeat size with ovarian dysfunction [J].

Sullivan, AK ;

Marcus, M ;

Epstein, MP ;

Allen, EG ;

Anido, AE ;

Paquin, JJ ;

Yadav-Shah, M ;

Sherman, SL .

HUMAN REPRODUCTION, 2005, 20 (02) :402-412

[10] Elevated levels of FMR1 mRNA in carrier males:: A new mechanism of involvement in the fragile-X syndrome [J].

Tassone, F ;

Hagerman, RJ ;

Taylor, AK ;

Gane, LW ;

Godfrey, TE ;

Hagerman, PJ .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (01) :6-15