利用外周血或口腔黏膜组织识别特纳综合征中的Y染色体。
Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue.
作者信息
Barbosa Lene Garcia, Siviero-Miachon Adriana Aparecida, Souza Maria Anunciação, Spinola-Castro Angela Maria
机构信息
Division of Pediatric Endocrinology, Department of Pediatrics in Federal University of Sao Paulo (UNIFESP-EPM), Sao Paulo, Brazil.
Neuroscience and Cognition in Federal University ABC, Santo André, Brazil.
出版信息
Ann Pediatr Endocrinol Metab. 2021 Dec;26(4):272-277. doi: 10.6065/apem.2142026.013. Epub 2021 Oct 8.
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.
目的
特纳综合征定义为表型为女性的患者中第二条性染色体完全或部分缺失。由于存在Y染色体片段隐匿性嵌合体及性腺母细胞瘤发生的可能性，我们采用多重聚合酶链反应评估了来自两个不同胚胎起源组织（外周血淋巴细胞（中胚层）和口腔黏膜细胞（外胚层））中此类片段的存在情况。
方法
收集了109例患者的DNA样本，并使用了针对SRY、TSPY和AMELX基因的引物。
结果
我们发现14例患者（12.8%）Y染色体分子标记呈阳性。对不同胚胎起源组织的研究显示出相同程度的一致性、敏感性和特异性。
结论
口腔黏膜细胞采集方法更简便，侵入性更小，DNA提取所需时间更短，成本更低。
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