Artículo

Sundblad, V.; Chiauzzi, V.A.; Escobar, M.E.; Dain, L.; Charreau, E.H. "Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF)" (2004) Molecular and Cellular Endocrinology. 222(1-2):53-59
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Abstract:

Diverse mutations in FSH-receptor (FSHR) gene have been described as possible cause of premature ovarian failure (POF). To investigate the presence of mutations and/or polymorphisms in FSHR gene, DNA from 20 POF, 5 of which were diagnosed as resistant ovary syndrome (ROS), and from 44 controls was isolated from peripheral lymphocytes. The complete coding sequence was analysed by PCR followed by SSCP, direct sequencing or restriction enzyme analysis. No mutations in FSHR gene were identified in the patients studied. The two already described polymorphisms in exon 10, A919G and A2039G, cosegregated in all the homozygous individuals, indicating that FSHR presents two isoforms: Ala307- Ser680 and Thr307-Asn680. OR results suggest that the 919G-2039G allelic variant or the homozygous genotype is not associated to disease risk. In addition, a heterozygous substitution T1022C (Val341Ala) was found in two control subjects. We suggest that mutations in FSHR gene are rare in women with POF in Argentine. Presence of a particular FSHR isoform does not appear to be associated with this disease. © 2004 Elsevier Ireland Ltd. All rights reserved.

Registro:

Documento: Artículo
Título:Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF)
Autor:Sundblad, V.; Chiauzzi, V.A.; Escobar, M.E.; Dain, L.; Charreau, E.H.
Filiación:Inst. de Biol. Y Med. Experimental, Vuelta de Obligado 2490, C1428ADN Buenos Aires, Argentina
Ctro. de Invest. Endocrinologicas, Hosp. de Ninos Ricardo Gutierrez, Buenos Aires, Argentina
Ctro. Nac. de Genet. Medica, Buenos Aires, Argentina
Fac. de Ciencias Exactas Y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina
Palabras clave:FSH-receptor gene; Premature ovarian failure; Resistant ovary syndrome; follitropin receptor; adolescent; adult; article; clinical article; controlled study; enzyme analysis; exon; female; gene identification; gene mutation; genetic polymorphism; genetic risk; genotype; heterozygosity; homozygosity; human; peripheral lymphocyte; polymerase chain reaction; premature ovarian failure; priority journal; screening; Adolescent; Adult; Argentina; Case-Control Studies; Exons; Female; Genotype; Heterozygote; Homozygote; Humans; Lymphocytes; Mass Screening; Mutation; Ovarian Failure, Premature; Ovary; Polymerase Chain Reaction; Polymorphism, Genetic; Polymorphism, Single-Stranded Conformational; Receptors, FSH; Risk Factors
Año:2004
Volumen:222
Número:1-2
Página de inicio:53
Página de fin:59
DOI: http://dx.doi.org/10.1016/j.mce.2004.05.002
Título revista:Molecular and Cellular Endocrinology
Título revista abreviado:Mol. Cell. Endocrinol.
ISSN:03037207
CODEN:MCEND
CAS:Receptors, FSH
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03037207_v222_n1-2_p53_Sundblad

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Citas:

---------- APA ----------
Sundblad, V., Chiauzzi, V.A., Escobar, M.E., Dain, L. & Charreau, E.H. (2004) . Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF). Molecular and Cellular Endocrinology, 222(1-2), 53-59.
http://dx.doi.org/10.1016/j.mce.2004.05.002
---------- CHICAGO ----------
Sundblad, V., Chiauzzi, V.A., Escobar, M.E., Dain, L., Charreau, E.H. "Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF)" . Molecular and Cellular Endocrinology 222, no. 1-2 (2004) : 53-59.
http://dx.doi.org/10.1016/j.mce.2004.05.002
---------- MLA ----------
Sundblad, V., Chiauzzi, V.A., Escobar, M.E., Dain, L., Charreau, E.H. "Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF)" . Molecular and Cellular Endocrinology, vol. 222, no. 1-2, 2004, pp. 53-59.
http://dx.doi.org/10.1016/j.mce.2004.05.002
---------- VANCOUVER ----------
Sundblad, V., Chiauzzi, V.A., Escobar, M.E., Dain, L., Charreau, E.H. Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF). Mol. Cell. Endocrinol. 2004;222(1-2):53-59.
http://dx.doi.org/10.1016/j.mce.2004.05.002