Same day diagnosis of Down's syndrome and sex in single cells using multiplex fluorescent PCR
Same day diagnosis of Down's syndrome and sex in single cells using multiplex fluorescent PCR
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DOI：
10.1136/mp.51.3.164
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发表时间：
1998-06-01
期刊：
影响因子：
--
通讯作者：
Papp, Z
中科院分区：
文献类型：
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作者：
Findlay, I;Matthews, P;Papp, Z
产前诊断的主要原因在于检测三体，特别是21三体（唐氏综合征）。目前的技术需要冗长的实验室程序和高昂的成本。此外，如果样本体积小或受到污染，通常无法进行诊断。另一种方法，短串联重复序列（STRs）的定量荧光聚合酶链反应（PCR）也可用于诊断三体，其优点是在5至8小时内获得结果。然而，该方法目前仅限于相对较大的样本量，这限制了诊断的置信度和价值。近年来，荧光PCR基因诊断已在单细胞水平上得到应用，但仅限于性别或单基因缺陷诊断。本研究首次采用定量多重荧光PCR技术，在单个细胞中同时诊断和确认性别和三体。21号染色体的两个标记增加了诊断的可信度、信息量和确证性。该系统快速（5小时），可靠，准确，我们相信它将比其他方法更具成本效益。该技术可直接应用于胚胎植入前遗传学诊断、早期产前诊断和其他样本量有限的诊断系统。
The major reason for prenatal diagnosis lies in the detection of trisomies, particularly trisomy 21 (Down's syndrome). Current techniques require lengthy laboratory procedures and high costs. Furthermore, diagnosis is often not possible if the sample is of small size or is contaminated. An alternative method, quantitative fluorescent polymerase chain reaction (PCR) of short tandem repeats (STRs), call also be used to diagnose trisomies and it has the advantage that a result: is obtained within five to eight hours. However, this method is currently limited to relatively large amounts of sample, which restricts diagnostic confidence and value. Recently, genetic diagnosis using fluorescent PCR has been applied at the single cell level but is limited to sex or single gene defect diagnosis. This study, using quantitative multiplex fluorescent PCR, provides for the first time simultaneous diagnosis and confirmation of sex and trisomy in single cells. Two markers for chromosome 21 increase diagnostic confidence, informativeness, and confirmation. This system is rapid (five hours), reliable, and accurate and we believe that it will, be more cost effective than alternative methods. The technique has direct application to preimplantation genetic diagnosis, early prenatal diagnosis, and other diagnostic systems where sample size is limited.