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荧光原位杂交技术在Y染色体微缺失患者中的应用
引用本文:杜生荣,康跃凡,徐两蒲,黄海龙,郑备红,林典梁,孙艳,陈文祯. 荧光原位杂交技术在Y染色体微缺失患者中的应用[J]. 福建医科大学学报, 2014, 0(1): 47-49
作者姓名:杜生荣  康跃凡  徐两蒲  黄海龙  郑备红  林典梁  孙艳  陈文祯
作者单位:杜生荣 (福建省妇幼保健院生殖研究室,福州,350001); 康跃凡 (福建省妇幼保健院生殖研究室,福州,350001); 徐两蒲 (福建省妇幼保健院产前诊断中心,福州,350001); 黄海龙 (福建省妇幼保健院产前诊断中心,福州,350001); 郑备红 (福建省妇幼保健院生殖研究室,福州,350001); 林典梁 (福建省妇幼保健院生殖研究室,福州,350001); 孙艳 (福建省妇幼保健院生殖研究室,福州,350001); 陈文祯 (福建省妇幼保健院生殖研究室,福州,350001);
基金项目:福建省计划生育重点专科项目(闽财指20121589);福建省卫生系统中青年骨干人才培养项目(项目编号:2013-ZQN-ZD-6)
摘    要:目的探讨荧光原位杂交技术在Y染色体微缺失患者中的应用价值。方法辅助生育中借助显微操作系统,在卵裂期6~8细胞中活检1~2个细胞行荧光原位杂交,选择核型为46,XX的胚胎移植。结果在活检的11个胚胎中,染色体核型异常的2枚,46,XX的胚胎8枚,46,XY的胚胎1枚。移植核型46,XX的2枚胚胎获单胎妊娠出生正常女婴。结论对Y染色体微缺失的患者,通过胚胎植入前遗传学诊断选择女性胚胎移植,可有效阻断遗传性疾病传递给下一代。

关 键 词:Y染色体  胚胎移植  少精子症  原位杂交  荧光  植人前诊断

Application of Fluorescence in Stiu Hybridization Techniquefor Patients of Y-chromosome Microdeletion
DU Shengrong,KANG Yuefan,XU Liangpu,HUANG Hailong,ZHENG Beihong,LIN Dianliang,SUN Yan,CHEN Wenzhen. Application of Fluorescence in Stiu Hybridization Techniquefor Patients of Y-chromosome Microdeletion[J]. Journal of Fujian Medical University, 2014, 0(1): 47-49
Authors:DU Shengrong  KANG Yuefan  XU Liangpu  HUANG Hailong  ZHENG Beihong  LIN Dianliang  SUN Yan  CHEN Wenzhen
Affiliation:1.The Reproduction Medical Center of the Hospital for Women and Children of Fujian Province, Fuzhou 350001, China; 2. The Prenatal Diagnosis Center of the Hospital for Women and Children of Fujian Province, Fuzhou 350001, China)
Abstract:Objective Establishing a platform to evaluate the value of fluorescence in stiu hybrid- ization for detecting Y-chromosome microdeletion. Methods One or two biopsies from six to eight cells at the cleavage stage were used to perform the fluorescence in stiu hybridization. The embryo whose karyotype was 46, XX was transferred. Results Eleven embryos biopsies were observed, among which 8 were 46, XX, 2 were abnormal and only one was 46, XY. After two embryos of karyotype 46, XX were transferred, one healthy baby girl was born. Conclusions Fluorescence in stiu hybridization is effective in preventing the next generation from inheriting genetic defects and has crucial role in preimplantation genetic diagnosis.
Keywords:mosome  embryo transfer  oligospermia  in situ hybridization,fluorescence  preimplantation diagnosis
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