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首页> 外文期刊>Balkan journal of medical genetics: BJMG >RAPID DETECTION OF FETAL ANEUPLOIDIES BY QUANTITATIVE FLUORESCENT-POLYMERASE CHAIN REACTION FOR PRENATAL DIAGNOSIS IN THE TURKISH POPULATION
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RAPID DETECTION OF FETAL ANEUPLOIDIES BY QUANTITATIVE FLUORESCENT-POLYMERASE CHAIN REACTION FOR PRENATAL DIAGNOSIS IN THE TURKISH POPULATION

机译：定量荧光-聚合酶链反应快速检测胎儿血肿以进行土耳其人群的产前诊断

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摘要

Prenatal diagnosis is testing for diseases or conditions in a fetus or embryo before it is born. It employs a variety of techniques to determine the health and condition of an unborn fetus. The main goal of this process is to perform prenatal diagnosis at the earliest possible stage of gestation. In this regard, quantitative fluorescent-polymerase chain reaction (QF-PCR), a novel technique that is fast and reliable, was employed to detect aneuploidies (13, 18, 21, X and Y) without the need of the time-consuming culturing process. The QF-PCR method can detect five different chromosome aneuploidies with 98.6% accuracy. In this study, 1874 amniotic fluid samples of pregnant subjects, who were referred to the Department of Medical Biology and Genetics, Adana, Turkey (molecular biology section), were analyzed with the QF-PCR technique by employing 27 short tandem repeat (STR) markers to detect chromosomes 13,18,21, X and Y aneuploidies. We detected 31 subjects (1.7%) with aneuploidies or euploidies out of the 1874 subjects. The average age of the pregnant subjects was 32 (range: 14-49).
机译：产前诊断是在胎儿或胚胎出生前测试其疾病或状况。它采用了多种技术来确定胎儿的健康状况。该过程的主要目标是在妊娠的最早阶段进行产前诊断。在这方面，快速而可靠的新技术定量荧光聚合酶链反应（QF-PCR）被用于检测非整倍性（13、18、21，X和Y），而无需耗时的培养处理。 QF-PCR方法可检测5种不同的染色体非整倍性，准确度达98.6％。在这项研究中，通过QF-PCR技术，通过采用27个短串联重复序列（STR），对被转诊至土耳其阿达纳市医学生物学和遗传学系（分子生物学科）的1874名怀孕受试者的羊水样本进行了分析。检测染色体13、18、21，X和Y非整倍性的标记。我们从1874名受试者中检测到31位受试者（1.7％）具有非整倍体或整倍体。怀孕受试者的平均年龄为32岁（范围：14-49岁）。

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