Navegando por Palavras-chave "Y Chromosome"
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- ItemSomente MetadadadosHeteromorfismos Q. caracterização de uma amostra de mongolóides brasileiros e comparação com uma amostra de negróides brasileiros(Universidade Federal de São Paulo (UNIFESP), 1991) Toledo, Silvia Regina Caminada de [UNIFESP]; Andrade, Joyce Anderson Duffles [UNIFESP]
- ItemSomente MetadadadosIdentificação de região correspondente ao gene determinante do sexo no cromossomo Y (SRY) em pacientes com síndrome de Turner através de reação em cadeia por polimerase(Universidade Federal de São Paulo (UNIFESP), 1996) Strufaldi, Maria Wany Louzada [UNIFESP]; Verreschi, Ieda Therezinha do Nascimento [UNIFESP]
- ItemSomente MetadadadosMarcadores moleculares do cromossomo Y em DNA de mucosa oral e sangue periferico de pacientes com Síndrome de Turner(Universidade Federal de São Paulo (UNIFESP), 2020-08-05) Barbosa, Lene Garcia [UNIFESP]; Castro, Angela Maria Spinola E [UNIFESP]; Universidade Federal de São PauloConsidering the high percentage of mosaicism and the possible clinical impact of the presence of fragments of the Y chromosome in patients with Turner Syndrome, we proposed in this study to develop a multiplex polymerase chain reaction (mPCR) to evaluate the presence of these fragments in two tissues with origin different embryonic cells, such as peripheral blood lymphocytes (mesoderm) and oral mucosa cells (ectoderm). DNA samples were collected from 109 patients. Primers for mPCR were built with the help of the MPprimer program to assess possible interactions between them. Two genes present on the Y chromosome and one on the X were used. The amplified samples were evaluated by conventional electrophoresis on 1.8% agarose gel and subsequently by capillary electrophoresis. We found 14 patients (12.8%) with positive molecular markers for Y chromosome, both in the blood and in the oral mucosa swab. The karyotype showed a sensitivity of 95.8%, but a specificity of 28.6% in relation to the molecular test. In conclusion, the mPCR protocol established in this study, combined with capillary electrophoresis, proved to be efficient for identifying Y fragments and must be used in the outpatient routine. The study of tissues of different embryological origin, such as blood and oral tissue obtained the same degree of agreement, as well as the same sensitivity and specificity.