| 利用双色实时荧光定量PCR法快速进行产前诊断 |
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| 引用本文： | 符可鹏,孙雷,叶海明,颜善活,龙驹,劳可干,樊祖茜,颜美红. 利用双色实时荧光定量PCR法快速进行产前诊断[J]. 中国优生与遗传杂志, 2013, 0(12): 42-44,114 |
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| 作者姓名： | 符可鹏 孙雷 叶海明 颜善活 龙驹 劳可干 樊祖茜 颜美红 |
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| 作者单位： | 广西钦州市妇幼保健院产前诊断中心优生遗传实验室,广西钦州535000 |
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| 基金项目： | 钦州市科学研究与技术开发计划项目编号：20100901 |
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| 摘 要： | 目的利用双色实时荧光定量PCR法进行21-三体与18-三体的快速产前诊断。方法分别以21号的APP基因与18号染色体的TYMS基因为目的基因设计引物和不同荧光标记的Taqman探针，以相对定量指标△CT值判断21号与18号染色体的数目；并将其检测结果与传统染色体核型分析方法进行对比。结果60例羊水细胞区分出了4例21-三体，3例18三体标本，正常人的△CT值为-0．89±0．22，21-三体患者及18-三体患者的ACT值分别-0．04±0．17和-1．55±0．24，患者与正常人标本组之间无交叉重叠，均有明显差异（P〈0．001）。结论实验建立的双重实时荧光定量PCR能用于快速诊断羊水细胞的21-三体和18-三体等非整倍体。
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| 关 键 词： | 21-三体 18-三体 实时荧光定量PCR 产前诊断 |
Rapid diagnosis of trisomy 21 or trisomy 18 by dual real - time fluorescence relative quantitative PCR. |
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| Affiliation: | FU Ke - peng ,SUN Lei , YE Hai - ming , YAN Shah - huo , LONG Ju , LAO Ke - gan , FAN Zu - qian , YAN Mei - hong. ( Prenatal Diagnosis Center of Qinzhou, Maternal and Child Health Care Hospital, Qinzhou, Guangxi 535000, China) |
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| Abstract: | Objective： To establish a dual real - time fluorescence relative quantitative PCR method for diagnosis of trisomy 21 and trisomy 18. Methods： The APP gene on chromosome 21 and TYMS gene on chromosome 18 were used as the target genes. The primers and probes were design for the two genes, and which were amplified in a single reaction. The △CT value of relative quantitative was used to differentiate trisomy 21 and trisomy 18 patients from normal individual. Results ： the PCR product ratio of APP to TYMS, in the normal control the ACT was -0. 89 ±0. 22; in trisomy 21 and trisomy 18 were -0. 04 ±0. 17 and - 1.55 ±0. 24, respectively. The △CT value from trisomy 21 or trisomy 18 group were dramatically different from normal group （P 〈0. 001 ）. Conclusion： Real - time fluorescence quantitative PCR is a rapid and accurate method for prenatal diagnosis of trisomy 21 and trisomy 18. |
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| Keywords: | Trisomy 21 Trisomy 18 RT - PCR Prenatal diagnosis |
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