中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2009年
5期
529-532
,共4页
沈艳艳%李健%孔辉%吴慧南%吴琼%葛运生%黄新力%周裕林
瀋豔豔%李健%孔輝%吳慧南%吳瓊%葛運生%黃新力%週裕林
침염염%리건%공휘%오혜남%오경%갈운생%황신력%주유림
荧光原位杂交%产前诊断%衍生染色体%标记染色体
熒光原位雜交%產前診斷%衍生染色體%標記染色體
형광원위잡교%산전진단%연생염색체%표기염색체
fluorescence in situ hybridization%prenatal diagnosis%derivative chromosome%mark chromosome
目的 探讨荧光原位杂交技术(fluorescence in situ hybridization,FISH)在复杂染色体异常产前诊断中的应用价值.方法 对8例羊水、3例脐血常规G显带具有复杂染色体异常的产前诊断孕妇,应用FISH技术确定其复杂染色体重排及标记染色体的组成.结果 FISH技术证实了G-显带平衡易位的结果,同时明确了3例羊水中衍生染色体的组成、2例脐血中标记染色体的来源.结论 FISH技术具很高的敏感性和特异性,是明确染色体异常重要的分子细胞遗传学工具,其在产前诊断中的应用,可为临床提供更准确全面的实验依据.
目的 探討熒光原位雜交技術(fluorescence in situ hybridization,FISH)在複雜染色體異常產前診斷中的應用價值.方法 對8例羊水、3例臍血常規G顯帶具有複雜染色體異常的產前診斷孕婦,應用FISH技術確定其複雜染色體重排及標記染色體的組成.結果 FISH技術證實瞭G-顯帶平衡易位的結果,同時明確瞭3例羊水中衍生染色體的組成、2例臍血中標記染色體的來源.結論 FISH技術具很高的敏感性和特異性,是明確染色體異常重要的分子細胞遺傳學工具,其在產前診斷中的應用,可為臨床提供更準確全麵的實驗依據.
목적 탐토형광원위잡교기술(fluorescence in situ hybridization,FISH)재복잡염색체이상산전진단중적응용개치.방법 대8례양수、3례제혈상규G현대구유복잡염색체이상적산전진단잉부,응용FISH기술학정기복잡염색체중배급표기염색체적조성.결과 FISH기술증실료G-현대평형역위적결과,동시명학료3례양수중연생염색체적조성、2례제혈중표기염색체적래원.결론 FISH기술구흔고적민감성화특이성,시명학염색체이상중요적분자세포유전학공구,기재산전진단중적응용,가위림상제공경준학전면적실험의거.
Objective To investigate the application of fluorescence in situ hybridization (FISH) technique in prenatal diagnosis of complex chromosomal abnormalities. Methods Eleven prenatal diagnosis cases (8 from amniocentesis and 3 from cord blood) with complex chromosomal abnormalities detected by routine G-banding, were further analyzed by FISH. Results The FISH technique confirmed the results of balanced chromosome rearrangements detected by G-banding, and clarified the structure of the derivative chromosomes in the 3 amniocentesis samples and the origin of the mark chromosomes in the 2 cord blood samples. Conclusion FISH can be used to diagnose the complex chromosomal abnormalities accurately in prenatal diagnosis, and can provide very useful genetic information for clinical diagnosis and treatment.
