Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF)
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 i...
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todo:paper_03037207_v222_n1-2_p53_Sundblad2023-10-03T15:19:49Z Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF) Sundblad, V. Chiauzzi, V.A. Escobar, M.E. Dain, L. Charreau, E.H. 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 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. Fil:Sundblad, V. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Charreau, E.H. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar http://hdl.handle.net/20.500.12110/paper_03037207_v222_n1-2_p53_Sundblad |
| institution |
Universidad de Buenos Aires |
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I-28 |
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R-134 |
| collection |
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
| topic |
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 |
| spellingShingle |
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 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) |
| topic_facet |
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 |
| description |
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. |
| format |
JOUR |
| author |
Sundblad, V. Chiauzzi, V.A. Escobar, M.E. Dain, L. Charreau, E.H. |
| author_facet |
Sundblad, V. Chiauzzi, V.A. Escobar, M.E. Dain, L. Charreau, E.H. |
| author_sort |
Sundblad, V. |
| title |
Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF) |
| title_short |
Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF) |
| title_full |
Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF) |
| title_fullStr |
Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF) |
| title_full_unstemmed |
Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF) |
| title_sort |
screening of fsh receptor gene in argentine women with premature ovarian failure (pof) |
| url |
http://hdl.handle.net/20.500.12110/paper_03037207_v222_n1-2_p53_Sundblad |
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