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首页> 外文期刊>Iranian journal of pediatrics >Investigation of QF-PCR Application for Rapid Prenatal Diagnosis of Chromosomal Aneuploidies in Iranian Population
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Investigation of QF-PCR Application for Rapid Prenatal Diagnosis of Chromosomal Aneuploidies in Iranian Population

机译：QF-PCR在伊朗人群染色体非整倍性快速产前诊断中的应用研究

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ObjectiveG-Banding followed by standard chromosome analysis is routinely used for prenatal detection of chromosomal abnormalities. In recent years, molecular cytogenetic techniques have been developed for rapid diagnosis of chromosomal abnormalities. Among these methods Quantitative Florescence Polymerase Chain Reaction (QF-PCR) has been widely used for this purpose. Heterozygosity of short tandem repeat (STR) markers which leads to informativity is the most critical requirement for feasibility of QF-PCR.MethodsIn this study we analyzed several short tandem repeats on chromosomes 13, 18, 21, X and Y on amniotic fluid samples obtained from PND candidates to diagnose conditions such as Down, Edward and Patau syndromes and also numerical sex chromosome abnormalities such as Klinefelter and Turner syndromes.FindingsMost of the analyzed STRs had acceptable heterozygosity (66.3-94.7) to be used in QF-PCR based prenatal diagnosis. Moreover, results obtained from both methods (standard karyotype and QF-PCR) for all samples were in accordance with each other.ConclusionIn case of using appropriate STR markers, and in certain clinical indications, QF-PCR could be used as useful technique for prenatal diagnosis even in consanguine populations such as Iranians.
机译：在常规的产前检测中，通常使用ObjectiveG波段法和随后的标准染色体分析进行染色体异常检测。近年来，已经开发了用于快速诊断染色体异常的分子细胞遗传学技术。在这些方法中，定量荧光聚合酶链反应（QF-PCR）已广泛用于此目的。短串联重复序列（STR）标记的杂合性导致信息化是QF-PCR可行性的最关键要求。方法在本研究中，我们分析了获得的羊水样本上13、18、21，X和Y染色体上的几个短串联重复序列从PND候选人中诊断出唐氏，爱德华和帕陶综合征等疾病，以及性染色体异常数字（如Klinefelter和Turner综合征）。发现大多数分析的STR具有可接受的杂合性（66.3-94.7），可用于基于QF-PCR的产前诊断。此外，从两种方法（标准核型和QF-PCR）获得的所有样品的结果彼此一致。结论在使用适当的STR标记物的情况下，在某些临床适应症中，QF-PCR可作为产前检查的有用技术甚至在伊朗等近亲人群中也能进行诊断。

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