Cargando…
Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue
PURPOSE: Turner syndrome is defined as total or partial loss of the second sex chromosome in a phenotypically female patient. Due to the possibility of hidden mosaicism of fragments of the Y chromosome and development of gonadoblastoma, we evaluated the presence of such fragments in 2 tissues with d...
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Korean Society of Pediatric Endocrinology
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8749017/ https://www.ncbi.nlm.nih.gov/pubmed/34634867 http://dx.doi.org/10.6065/apem.2142026.013 |
_version_ | 1784631140056825856 |
---|---|
author | Barbosa, Lene Garcia Siviero-Miachon, Adriana Aparecida Souza, Maria Anunciação Spinola-Castro, Angela Maria |
author_facet | Barbosa, Lene Garcia Siviero-Miachon, Adriana Aparecida Souza, Maria Anunciação Spinola-Castro, Angela Maria |
author_sort | Barbosa, Lene Garcia |
collection | PubMed |
description | PURPOSE: Turner syndrome is defined as total or partial loss of the second sex chromosome in a phenotypically female patient. Due to the possibility of hidden mosaicism of fragments of the Y chromosome and development of gonadoblastoma, we evaluated the presence of such fragments in 2 tissues with different embryonic origins, peripheral blood lymphocytes (mesoderm), and oral mucosal cells (ectoderm) using multiplex polymerase chain reaction. METHODS: DNA samples were collected from 109 patients, and primers for the SRY, TSPY, and AMELX genes were used. RESULTS: We found 14 patients (12.8%) with positive molecular markers for the Y chromosome. The study of tissues of different embryological origin showed the same degree of agreement, sensitivity, and specificity. CONCLUSIONS: Oral mucosa cells have a simpler method of collection that is less invasive and requires less time for DNA extraction at a lower cost. |
format | Online Article Text |
id | pubmed-8749017 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Korean Society of Pediatric Endocrinology |
record_format | MEDLINE/PubMed |
spelling | pubmed-87490172022-01-18 Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue Barbosa, Lene Garcia Siviero-Miachon, Adriana Aparecida Souza, Maria Anunciação Spinola-Castro, Angela Maria Ann Pediatr Endocrinol Metab Original Article PURPOSE: Turner syndrome is defined as total or partial loss of the second sex chromosome in a phenotypically female patient. Due to the possibility of hidden mosaicism of fragments of the Y chromosome and development of gonadoblastoma, we evaluated the presence of such fragments in 2 tissues with different embryonic origins, peripheral blood lymphocytes (mesoderm), and oral mucosal cells (ectoderm) using multiplex polymerase chain reaction. METHODS: DNA samples were collected from 109 patients, and primers for the SRY, TSPY, and AMELX genes were used. RESULTS: We found 14 patients (12.8%) with positive molecular markers for the Y chromosome. The study of tissues of different embryological origin showed the same degree of agreement, sensitivity, and specificity. CONCLUSIONS: Oral mucosa cells have a simpler method of collection that is less invasive and requires less time for DNA extraction at a lower cost. Korean Society of Pediatric Endocrinology 2021-12 2021-10-08 /pmc/articles/PMC8749017/ /pubmed/34634867 http://dx.doi.org/10.6065/apem.2142026.013 Text en © 2021 Annals of Pediatric Endocrinology & Metabolism https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Article Barbosa, Lene Garcia Siviero-Miachon, Adriana Aparecida Souza, Maria Anunciação Spinola-Castro, Angela Maria Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue |
title | Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue |
title_full | Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue |
title_fullStr | Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue |
title_full_unstemmed | Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue |
title_short | Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue |
title_sort | recognition of the y chromosome in turner syndrome using peripheral blood or oral mucosa tissue |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8749017/ https://www.ncbi.nlm.nih.gov/pubmed/34634867 http://dx.doi.org/10.6065/apem.2142026.013 |
work_keys_str_mv | AT barbosalenegarcia recognitionoftheychromosomeinturnersyndromeusingperipheralbloodororalmucosatissue AT sivieromiachonadrianaaparecida recognitionoftheychromosomeinturnersyndromeusingperipheralbloodororalmucosatissue AT souzamariaanunciacao recognitionoftheychromosomeinturnersyndromeusingperipheralbloodororalmucosatissue AT spinolacastroangelamaria recognitionoftheychromosomeinturnersyndromeusingperipheralbloodororalmucosatissue |