Genetic analysis of a variant luteinizing hormone in an infertile woman

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Genetic analysis revealed two substitutional mutations in the β-subunit of luteinizing hormone in an infertile woman, potentially linking the variant hormone to her infertility and endometrial polyp.

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This case report describes genetic and immunologic analysis of the β-subunit of luteinizing hormone in a woman with infertility who had an endometrial polyp. The β-subunit showed anomalous immunoreactivity: it was detected by a time-resolved fluoroimmunoassay but not by an immunoradiometric assay. Sequencing identified two substitutional mutations, changing Trp (TGG) to Arg (CGG) and Ile (ATC) to Thr (ACC), and the authors state that the variant luteinizing hormone might have some relation to the infertility and the endometrial polyp, while the report is limited by its single-subject nature. This paper does not explicitly discuss endometriosis or adenomyosis; it was included in the corpus via a keyword match in the upstream search index.

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Abstract

In a woman with infertility and an endometrial polyp, we analyzed the nucleotide sequence of the beta-subunit of her luteinizing hormone which showed anomalous immunogenecity in that it was recognized by time resolved-fluoroimmunoassay but not by immunoradiometric assay. The sequence analysis showed two substitutional mutations of beta-subunit Trp (TGG) to Arg (CGG) and Ile (ATC) to Thr (ACC). The variant luteinizing hormone might have had some relation to the infertility and the endometrial polyp. been described [2, 4, 13-15]. Although the role of the variant LH is still unclear, it has different biologicl activity as compared to normal LH and may play a role in causing infertility, menstrual disorder, endometriosis and spontaneous miscarriage [1, 3, 4, 9, 10, 17]. We now report a study of the DNA sequence of beta-subunit of anomalous LH in an infertile patient with an endometrial polyp.
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Abstract In a woman with infertility and an endometrial polyp, we analyzed the nucleotide sequence of the β-subunit of her luteinizing hormone which showed anomalous immunogenecity in that it was recognized by time resolved-fluoroimmunoassay but not by immunoradiometric assay. The sequence analysis showed two substitutional mutations of β-subunit Trp (TGG) to Arg (CGG) and Ile (ATC) to Thr (ACC). The variant luteinizing hormone might have had some relation to the infertility and the endometrial polyp. Similar content being viewed by others Author information Authors and Affiliations Additional information Received: 28 August 2000 / Accepted: 17 October 2000 Rights and permissions About this article Cite this article Okuno, A., Komori, S., Sakata, K. et al. Genetic analysis of a variant luteinizing hormone in an infertile woman. Arch Gynecol Obstet 265, 148–150 (2001). https://doi.org/10.1007/s004040000148 Issue date: DOI: https://doi.org/10.1007/s004040000148

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MeSH descriptors

Base Sequence Infertility, Female Infertility, Female Adult Amino Acid Sequence Base Sequence Female Genetic Variation Genetic Variation Humans Immunoassay Infertility, Female Luteinizing Hormone Luteinizing Hormone Molecular Sequence Data Point Mutation Polymerase Chain Reaction

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