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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.

DOI:10.6065/apem.2142026.013
PMID:34634867
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8749017/
Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2724/8749017/b93fc8073897/apem-2142026-013f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2724/8749017/b93fc8073897/apem-2142026-013f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2724/8749017/b93fc8073897/apem-2142026-013f1.jpg

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本文引用的文献

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Sex Dev. 2017;11(5-6):254-261. doi: 10.1159/000484880. Epub 2017 Dec 16.
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Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.特纳综合征患者护理临床实践指南：2016 年辛辛那提国际特纳综合征会议纪要。
Eur J Endocrinol. 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430.
3
Analyses of Gonadoblastoma Y (GBY)-locus and of Y centromere in Turner syndrome patients.
对特纳综合征患者的性腺母细胞瘤Y（GBY）位点和Y染色体着丝粒的分析。
Exp Clin Endocrinol Diabetes. 2015 Jan;123(1):61-5. doi: 10.1055/s-0034-1387734. Epub 2014 Oct 14.
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Analysis of Turner syndrome patients within the Jordanian population, with a focus on four patients with Y chromosome abnormalities.分析约旦人群中的特纳综合征患者，重点关注四位存在 Y 染色体异常的患者。
Sex Dev. 2013;7(6):295-302. doi: 10.1159/000354279. Epub 2013 Aug 29.
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Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome.口腔细胞荧光原位杂交（FISH）和血液聚合酶链反应- Y（PCR-Y）检测发现，特纳综合征患者中X染色体嵌合现象和Y染色体衍生物的发生率很高。
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6
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