[The use of FISH on buccal smear to investigate mosaicism with a 45,X cell line: study on healthy men and patients with disorders of sex development].

Arquivos brasileiros de endocrinologia e metabologia Pub Date : 2014-06-01 DOI:10.1590/0004-2730000002853

Juliana de Paulo, Juliana Gabriel Ribeiro de Andrade, Ana Paula dos Santos, Vera Lúcia Gil-da-Silva-Lopes, Gil Guerra-Júnior, Andréa Trevas Maciel-Guerra

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引用次数: 1

Abstract

Objective: To verify whether fluorescence in situ hybridization (FISH) of cells from the buccal epithelium could be employed to detect cryptomosaicism with a 45,X lineage in 46,XY patients.

Subjects and methods: Samples of nineteen 46,XY healthy young men and five patients with disorders of sex development (DSD), four 45,X/46,XY and one 46,XY were used. FISH analysis with X and Y specific probes on interphase nuclei from blood lymphocytes and buccal epithelium were analyzed to investigate the proportion of nuclei containing only the signal of the X chromosome.

Results: The frequency of nuclei containing only the X signal in the two tissues of healthy men did not differ (p = 0.69). In all patients with DSD this frequency was significantly higher, and there was no difference between the two tissues (p = 0.38), either.

Conclusions: Investigation of mosaicism with a 45,X cell line in patients with 46,XY DSD or sterility can be done by FISH directly using cells from the buccal epithelium.

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[使用FISH在口腔涂片上研究与45x细胞系的嵌合:对健康男性和性发育障碍患者的研究]。

目的:验证来自口腔上皮细胞的荧光原位杂交(FISH)是否可以用于检测46,xy患者的45,X谱系隐性息肉病。对象与方法:选取1996xy健康青年男性和5例性发育障碍(DSD)患者，其中4例45,X/46,XY, 1例46,XY。用X和Y特异性探针对血淋巴细胞和颊上皮的间期细胞核进行FISH分析，研究只含有X染色体信号的细胞核的比例。结果:健康男性两种组织中仅含X信号的核频率无显著差异(p = 0.69)。在所有DSD患者中，这一频率明显更高，两种组织之间也没有差异(p = 0.38)。结论:FISH可以直接利用口腔上皮细胞研究46、XY DSD或不育患者的45、X细胞系嵌合现象。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Arquivos brasileiros de endocrinologia e metabologia 医学-内分泌学与代谢

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4-8 weeks