دورية أكاديمية
Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms
| العنوان: | Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms |
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| المؤلفون: | Petr Vrtel, Radek Vrtel, Eva Klaskova, Dita Vrbicka, Katerina Adamova, Jan Pavlicek, Vaclav Hana, Ondrej Soucek, Veronika Stara, Jan Lebl, Marta Snajdrova, Jirina Zapletalova, Tomas Furst, Sabina Kapralova, Zdenek Tauber, Eva Krejcirikova, Marketa Routilova, Julia Stellmachova, Radek Vodicka, Martin Prochazka |
| المصدر: | Biomedical Papers, Vol 166, Iss 1, Pp 63-67 (2022) |
| بيانات النشر: | Palacký University Olomouc, Faculty of Medicine and Dentistry, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Medicine |
| مصطلحات موضوعية: | turner syndrome, karyotype, phenotype, haplotype, chromosome x origin, imprinting, Medicine |
| الوصف: | Aims. Turner syndrome is the only chromosome monosomy that is postnatally compatible with life. The reported incidence of TS is 1 in 2500 liveborn girls. The phenotype of these girls is highly variable, with cardiac abnormalities being life-threatening defects. The aim of the study was to reveal the possible influence of the parental origin of the X chromosome in these patients on a selected phenotype that is associated with Turner syndrome. Selected symptoms and parameters were: a bicuspid aortic valve, aortic coarctation, lymphoedema, pterygium colli, coeliac disease, thyroiditis, otitis media, diabetes mellitus 2, renal abnormalities, spontaneous puberty, and IVF. Methods. The X chromosome haplotype was determined for a group of 45,X patients verified by native FISH. A molecular diagnostic method based on the detection of different lengths of X chromosome-linked STR markers using the Argus X-12 QS kit was used to determine the X haplotype. Results. Our results, analysed by Fisher's exact (factorial) test, suggest independence between the maternal/paternal origin of the inherited X chromosome and the presence of the anomalies that were studied (P=1 to P=0.34). Conclusion. In the group of 45,X patients, who were precisely selected by means of the native FISH method, no correlation was demonstrated with the parental origin of the X chromosome and the observed symptom. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1213-8118 1804-7521 |
| Relation: | https://biomed.papers.upol.cz/artkey/bio-202201-0009_haplotype-analysis-of-the-x-chromosome-in-patients-with-turner-syndrome-in-order-to-verify-the-possible-effect.php; https://doaj.org/toc/1213-8118; https://doaj.org/toc/1804-7521 |
| DOI: | 10.5507/bp.2020.060 |
| URL الوصول: | https://doaj.org/article/25b523ce827d4ec6b9611619f2e11f93 |
| رقم الأكسشن: | edsdoj.25b523ce827d4ec6b9611619f2e11f93 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 12138118 18047521 |
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| DOI: | 10.5507/bp.2020.060 |