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KMID : 1036920210260040272
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Annals of Pediatric Endocrinology & Metabolism
2021 Volume.26 No. 4 p.272 ~ p.277
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Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue
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Barbosa Lene Garcia
Siviero-Miachon Adriana Aparecida
Souza Maria Anunciacao
Spinola-Castro Angela Maria
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Abstract
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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.
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KEYWORD
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Turner syndrome, Polymerase chain reaction, Y chromosome, Oral mucosa, Peripheral blood
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