| FOXE1 Polyalanine Tract Length Polymorphism in Patients with Thyroid Hemiagenesis and Subjects with Normal Thyroid. | |
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MedLine Citation:
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PMID: 21311165 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Background/Aims: Recent studies have pointed to the correlation between FOXE1 polyalanine tract (FOXE1-polyAla) length polymorphism and genetic susceptibility to thyroid dysgenesis causing congenital hypothyroidism. The objective of this study was a first assessment of the role of FOXE1-polyAla expansion in the genetic background of thyroid hemiagenesis (TH). Methods: The group studied consisted of 40 patients with TH, including 6 familial cases and a control group of 89 subjects with a normal thyroid. The polyAla tract and flanking sequence of FOXE1 was amplified using conventional PCR. Subsequently, capillary electrophoresis was performed to estimate the length of products. Results: A short variant of FOXE1-polyAla, containing 12 alanines, was present in 5 control subjects (5.6%), but was not found in TH. The incidence of longer variants (≥16 codons) of FOXE1-polyAla was significantly higher in patients with the familial form of TH in comparison to those with sporadic TH (p = 0.003) and controls (p = 0.005). Conclusions: There is high polymorphic variability of FOXE1-polyAla in both groups. Shorter variants of FOXE1-polyAla are underrepresented in subjects with familial TH. Therefore, FOXE1-polyAla tract expansion may contribute to the molecular background of familial but not sporadic forms of TH. Further studies are still required to confirm such findings. |
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Authors:
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Ewelina Szczepanek; Marek Ruchala; Witold Szaflarski; Bartlomiej Budny; Lidia Kilinska; Malgorzata Jaroniec; Marek Niedziela; Maciej Zabel; Jerzy Sowinski |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-2-10 |
Journal Detail:
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Title: Hormone research in paediatrics Volume: - ISSN: 1663-2826 ISO Abbreviation: - Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-2-11 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101525157 Medline TA: Horm Res Paediatr Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 S. Karger AG, Basel. |
Affiliation:
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Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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