[使用口腔涂片荧光原位杂交技术研究含有45,X细胞系的嵌合体：对健康男性和性发育障碍患者的研究]
[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].
作者信息
Paulo Juliana de, Andrade Juliana Gabriel Ribeiro de, Santos Ana Paula dos, Gil-da-Silva-Lopes Vera Lúcia, Guerra-Júnior Gil, Maciel-Guerra Andréa Trevas
机构信息
Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brasil.
FCM, Unicamp, Campinas, SP, Brasil.
出版信息
Arq Bras Endocrinol Metabol. 2014 Jun;58(4):328-34. doi: 10.1590/0004-2730000002853.
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.
目的
验证口腔颊黏膜上皮细胞的荧光原位杂交（FISH）技术是否可用于检测46,XY患者中含有45,X细胞系的隐匿性嵌合体。
研究对象与方法
使用了19名46,XY健康年轻男性以及5名性发育障碍（DSD）患者的样本，其中4名45,X/46,XY患者和1名46,XY患者。对血液淋巴细胞和口腔颊黏膜上皮细胞的间期核进行X和Y特异性探针的FISH分析，以研究仅含X染色体信号的核的比例。
结果
健康男性两种组织中仅含X信号的核的频率无差异（p = 0.69）。在所有DSD患者中，该频率显著更高，且两种组织之间也无差异（p = 0.38）。
结论
对于46,XY DSD或不育患者中45,X细胞系的嵌合体研究，可直接使用口腔颊黏膜上皮细胞通过FISH进行。
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