Diego-Alvarez Dan, Garcia-Hoyos Maria, Trujillo Maria Jose, Gonzalez-Gonzalez Cristina, Rodriguez de Alba Marta, Ayuso Carmen, Ramos-Corrales Carmen, Lorda-Sanchez Isabel
Fundacion Jimenez Diaz - Human Genetics, Avda. Reyes Catolicos, Madrid, Spain.
Hum Reprod. 2005 May;20(5):1235-43. doi: 10.1093/humrep/deh781. Epub 2005 Mar 10.
Aneuploidies involve approximately 80% of chromosomal anomalies found in spontaneous miscarriages. Since cytogenetic studies show high rates of failure, we have incorporated the quantitative fluorescent polymerase chain reaction (QF-PCR) technique to the study of numerical chromosome anomalies in miscarriages.
Multiplex and simple QF-PCR assays have been performed on 160 miscarriage and 34 parental DNA samples analysing specific short tandem repeat (STR) markers for chromosomes 2, 7, 13, 15, 16, 18, 21, 22 and X. Cases successfully karyotyped were used as controls in our study.
While maternal contamination could be detected in such cases, a molecular result was obtained for 94% of miscarriages without a cytogenetic one. Thirty-six per cent of them were diagnosed with numerical chromosome anomalies. Parental origin of the extra chromosome and the error stage of meiosis could be also determined.
QF-PCR represents a useful and reliable tool to diagnose aneuploidies in spontaneous miscarriages. It provides information about parental and meiotic origin of anomaly, allowing an appropriate genetic counselling.
非整倍体约占自然流产中发现的染色体异常的80%。由于细胞遗传学研究显示失败率很高，我们已将定量荧光聚合酶链反应（QF-PCR）技术纳入流产中染色体数目异常的研究。
对160例流产样本和34例亲代DNA样本进行了多重和简单的QF-PCR检测，分析了2、7、13、15、16、18、21、22号染色体和X染色体的特定短串联重复序列（STR）标记。在我们的研究中，成功进行核型分析的病例用作对照。
虽然在此类病例中可检测到母体污染，但94%的流产样本获得了分子检测结果，而未获得细胞遗传学检测结果。其中36%被诊断为染色体数目异常。还可以确定额外染色体的亲代来源和减数分裂的错误阶段。
QF-PCR是诊断自然流产中非整倍体的一种有用且可靠的工具。它提供了有关异常的亲代和减数分裂起源的信息，有助于进行适当的遗传咨询。
