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Titolo:
Implications of the FMR1 gene in menopause: study of 147 Spanish women
Autore:
Mallolas, J; Duran, M; Sanchez, A; Jimenez, D; Castellvi-Bel, S; Rife, M; Mila, M;
Indirizzi:
Hosp Clin & Prov Barcelona, Serv Genet, Barcelona, Spain Hosp Clin & Prov Barcelona Barcelona Spain Serv Genet, Barcelona, Spain Hosp Clin & Prov Barcelona, Serv Ginecol, Barcelona, Spain Hosp Clin & Prov Barcelona Barcelona Spain rv Ginecol, Barcelona, Spain IDIBAPS, Barcelona, Spain IDIBAPS Barcelona SpainIDIBAPS, Barcelona, Spain
Titolo Testata:
MENOPAUSE-THE JOURNAL OF THE NORTH AMERICAN MENOPAUSE SOCIETY
fascicolo: 2, volume: 8, anno: 2001,
pagine: 106 - 110
SICI:
1072-3714(200103/04)8:2<106:IOTFGI>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
PREMATURE OVARIAN FAILURE; FRAGILE-X-SYNDROME; RISK FACTOR; PREMUTATIONS; POF; ASSOCIATION; FAMILIES;
Keywords:
premature ovarian failure; early menopause; FMR1 gene premutation; twins;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
21
Recensione:
Indirizzi per estratti:
Indirizzo: Mila, M Hosp Clin Barcelona, Serv Genet, Villarroel 170, E-08036 Barcelona, Spain Hosp Clin Barcelona Villarroel 170 Barcelona Spain E-08036 Spain
Citazione:
J. Mallolas et al., "Implications of the FMR1 gene in menopause: study of 147 Spanish women", MENOPAUSE, 8(2), 2001, pp. 106-110

Abstract

Objective: To evaluate the relationship between the FMR1 premutation and premature ovarian failure (POF) in the Spanish population and the possible incorporation of this test in gynecological procedures for women with POF orearly menopause (EM). Design: Clinical and molecular genetic study. Ninety-eight premutated and six full-mutated carriers of fragile X syndrome and 43 women with POF were studied by polymerase chain reaction and Southern blot analysis for the CGGrepeat expansion in the FMR1 gene. Results: Among premutated carriers, 12.2% ( 12 of 98) presented with POF, and 15.3% (15 of 98) presented with EM. Neither POF nor EM was observed in any of the six full-mutated women. Two women of 43 from the POF population (4.65%) were carriers for the CGG premutation in the FMR1 gene. No correlation between CGG expansion size and age at menopause was found. A biased paternal origin of the premutation and a high twinning incidence was found in all premutated women, whether they had POF or not. Conclusions: Our data support the hypothesis that the FMR1 gene is one of the genes associated with POF and EM. Analysis of the CGG expansion in the FMR1 gene may be justified in women with POF and EM until the real role of the FMR1 premutation is determined.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/04/20 alle ore 23:58:44