Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue.
| Autor: | Barbosa LG; Division of Pediatric Endocrinology, Department of Pediatrics in Federal University of Sao Paulo (UNIFESP-EPM), Sao Paulo, Brazil., Siviero-Miachon AA; Division of Pediatric Endocrinology, Department of Pediatrics in Federal University of Sao Paulo (UNIFESP-EPM), Sao Paulo, Brazil., Souza MA; Neuroscience and Cognition in Federal University ABC, Santo André, Brazil., Spinola-Castro AM; Division of Pediatric Endocrinology, Department of Pediatrics in Federal University of Sao Paulo (UNIFESP-EPM), Sao Paulo, Brazil. |
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| Jazyk: | angličtina |
| Zdroj: | Annals of pediatric endocrinology & metabolism [Ann Pediatr Endocrinol Metab] 2021 Dec; Vol. 26 (4), pp. 272-277. Date of Electronic Publication: 2021 Oct 08. |
| DOI: | 10.6065/apem.2142026.013 |
| Abstrakt: | 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. Conclusion: Oral mucosa cells have a simpler method of collection that is less invasive and requires less time for DNA extraction at a lower cost. |
| Databáze: | MEDLINE |
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