摘要
目的应用细菌人工染色体（bacterial artificial chromosome，BAC）克隆自行制备荧光探针，对胎儿常见染色体数目异常（13，18，21，X，Y）行快速产前诊断。方法利用中国医学遗传学国家重点实验室BAC库中相应染色体特异位点克隆，自行制备荧光探针。经外周血淋巴细胞染色体杂交验证后，用于胎儿未培养羊水的快速荧光原位杂交（fluorescence in situ hybridization，FISH）检测，已检测60例羊水标本。结果所有探针特异性均为100％，杂交成功率为97．86％；FISH结果与常规核型分析一致，检出21三体2例，18三体1例。有两例涉及其它染色体的结构异常未能检出。结论自制探针用于未培养羊水快速FISH，使用标本量少、快速、简便，可有效检出上述5种染色体的数目异常，但本法不能检出其他染色体的数目异常和结构异常，其应用仍有一定局限性。
Objective To evaluate the feasibility of rapid prenatal diagnosis of chromosome aneuploidies by interphase fluorescence in situ hybridization （FISH） using uncultured amniotic fluid. Methods Bacterial artificial chromosome （BAC） DNA probes were prepared and validated by using cultured peripheral blood. Interphase FISH for chromusomes 13, 18, 21, X and Y was performed in 60 amniotic fluid samples for the rapid prenatal diagnosis of chromosome aneuploidies, and the results were compared with the karyotypes from conventional cytogenetic analysis. Results Of all 60 cases, 58 were concordant with their karyotypes, and 1 case of inv（9） and another case of t（2,12） were identified by karyotyping. Two cases of tfisomy 21 and 1 case of trisomy 18 were detected by FISH and confirmed with conventional cytogenetics （sensitivity = 100% ）. There were no false-positive or false-negtive results. Conclusion This evaluation demonstrated that FISH employing BAC DNA probes could accurately and rapidly detect aneuploidies involving the above 5 chromosomes. However, as it does not identify structural chromosome aberrations and aneuploidies involving other chromosomes, it is not a substitute for conventional chromosome analysis, and the negative FISH result should be carefully interpreted.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2008年第5期538-541,共4页
Chinese Journal of Medical Genetics
基金
国家自然科学基金（30571021）
国家“十一五”科技支撑项目（2006BA105A08）
关键词
间期荧光原位杂交
未培养羊水
产前诊断
非整倍体
fluorescence in situ hybridization
uncultured amniotic fluid
prenatal diagnosis
aneuploidy
