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新疆地区荧光原位杂交产前诊断非整倍体的应用价值 被引量:3

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摘要 目的探讨荧光原位杂交(FISH)技术产前诊断常见染色体非整倍体的应用价值。方法采用21、18、13、和Y染色体特异性DNA探针对96例孕18~23周孕妇的未培养羊水细胞进行FISH检测,同时行羊水细胞染色体核型分析。结果 FISH检测98例成功96例(97.9%),其中染色体数目正常93例(48例为46,XX;45例为46,XY)染色体数目异常3例(2例47,XX,+21;1例47,XX+18)。FISH诊断结果与核型分析结果一致,染色体数目异常的3例与传统核型分析结果完全一致。结论 FISH技术用于产前诊断常见染色体非整倍体,具有简便、快速、特异性强敏感性高、所用样本量少等优点。
出处 《中国优生与遗传杂志》 2010年第12期42-43,共2页 Chinese Journal of Birth Health & Heredity
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