Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR.
Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR.
复制标题
使用定量 PCR 进行性染色体非整倍体的分子诊断。
DOI：
10.1093/nar/19.15.4203
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发表时间：
1991
影响因子：
14.9
通讯作者：
Pomponio,RJ
中科院分区：
文献类型：
--
作者：
Mutter,GL;Pomponio,RJ
性染色体数目不平衡或非整倍体存在于几种病理状态中，包括肿瘤、异常妊娠和临床综合征。在这里，我们报告了一种方法来识别核型不平衡的X和Y染色体使用聚合酶链反应（PCR）。应用聚合酶链反应技术对性染色体连锁基因ZFX和ZFY进行共扩增。通过以下方式促进定量：1）使用识别两种模板的单一引物组，2）在扩增期间掺入放射性标记的核苷酸，以及3）使用使异源双链体形成最小化的扩增条件。该方法的高准确性通过与滴定的男性和女性DNA和性染色体非整倍性患者细胞的预期值一致而得到证实。该方法提供了一种快速、重复性好的检测等位基因相对丰度的方法，有望应用于常染色体非整倍体病的检测。
Numeric sex chromosome imbalances, or aneuploidies, are present in several pathological conditions including tumors, abnormal gestations, and clinical syndromes. Here we report a method to identity karyotypic imbalances of the X and Y chromosomes using the polymerase chain reaction (PCR). The polymerase chain reaction was used to quantitatively coamplify the sex chromosome linked genes ZFX and ZFY. Quantitation was facilitated by 1) use of a single primer set which recognizes both templates, 2) incorporation of radiolabelled nucleotides during amplification, and 3) use of amplification conditions which minimize heteroduplex formation. High accuracy of the method was confirmed by concordance with values expected from titrated male and female DNAs and cells from patients with sex chromosome aneuploidy. This approach provides a rapid and reproducible method of evaluating relative abundance of allelic genes, and might be applied to detection of autosomal aneuploldy.