Multiplex Quantitative Fluorescent Polymerase Chain Reaction for Detection of Aneuploidies
Multiplex Quantitative Fluorescent Polymerase Chain Reaction for Detection of Aneuploidies
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DOI：
10.1089/gtmb.2011.0243
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发表时间：
2012-06-01
影响因子：
1.4
通讯作者：
Agarwal, Sarita
中科院分区：
文献类型：
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作者：
Jain, Shalu;Panigrahi, Inusha;Agarwal, Sarita
定量荧光聚合酶链反应（QF-PCR）是一种成熟的方法，在西方国家，商业试剂盒被用于快速产前诊断非整倍体。这些试剂盒的局限性在于，这些试剂盒基本上是为高加索人群设计的，并且非常昂贵。因此，迫切需要在亚洲人群中调查信息标记，并开发用于检测非整倍体的本土信息标记。这是商业试剂盒的一种具有成本效益的替代品，可以很容易地在发展中国家使用。我们在确诊的唐氏综合征患者及其父母中检测了三种STR标记（D21 S1435、D21 S11和D21 S1411）。不分离的起源也通过QF-PCR确定。所有唐氏综合征病例均经STR分析证实为21三体。结果与核型分析结果100%吻合。不分离为母亲的占87.5%，父亲的占12.5%。减数分裂Ⅰ不分离导致87.5%的母体不分离和100%的父体不分离。三个STR标记的组合是高度信息化的，可用于诊断21三体在印度。
Quantitative fluorescent polymerase chain reaction (QF-PCR) is a well-established method in Western countries where commercial kits are being used for rapid prenatal diagnosis of aneuploidies. The limitations of these kits are that these are basically designed for the Caucasian population and are very expensive. Thus there is an urgent need to investigate the informative markers in the Asian population and to develop indigenous informative markers for detection of aneuploidies. This is a cost-effective alternate to the commercial kits and can be easily used in developing countries. We have tested three STR markers (D21S1435, D21S11, and D21S1411) in confirmed cases of Down syndrome and their parents. Origin of nondisjunction was also determined by means of QF-PCR. All the Down syndrome cases were confirmed for trisomy 21 by STR analysis. The results matched 100% with the karyotyping results. Nondisjunction was maternal in 87.5% cases and paternal in 12.5% cases. Nondisjunction during meiosis I was responsible for 87.5% cases of maternal nondisjunction and 100% cases of paternal nondisjunction. The combination of three STR markers is highly informative and can be used for diagnosis of trisomy 21 in India.