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
{"title":"[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]。","authors":"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","doi":"10.1590/0004-2730000002853","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>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.</p><p><strong>Subjects and methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":8395,"journal":{"name":"Arquivos brasileiros de endocrinologia e metabologia","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2014-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1590/0004-2730000002853","citationCount":"1","resultStr":"{\"title\":\"[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].\",\"authors\":\"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\",\"doi\":\"10.1590/0004-2730000002853\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>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.</p><p><strong>Subjects and methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>\",\"PeriodicalId\":8395,\"journal\":{\"name\":\"Arquivos brasileiros de endocrinologia e metabologia\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2014-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1590/0004-2730000002853\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Arquivos brasileiros de endocrinologia e metabologia\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1590/0004-2730000002853\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Arquivos brasileiros de endocrinologia e metabologia","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1590/0004-2730000002853","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
[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].
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.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
